{"id":85028,"date":"2021-11-02T09:00:00","date_gmt":"2021-11-02T00:00:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/"},"modified":"2024-12-03T17:57:09","modified_gmt":"2024-12-03T08:57:09","slug":"about-monosomy","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en","title":{"rendered":"What is Monosomy? &#8211; What we want to tell you who wish for the happiness of your baby [Doctor-supervised]"},"content":{"rendered":"\n<div class=\"toc\">\n  <ul>\n    <li><a href=\"#c1\">Preparing to welcome your new baby<\/a><\/li>\n    <li><a href=\"#c2\">Monosomy is a condition in which one chromosome is missing<\/a>\n      <ul>\n        <li><a href=\"#c2-1\">Chromosomes are where the human blueprint is located<\/a><\/li>\n        <li><a href=\"#c2-2\">The number of human chromosomes is 46 [2 per group]<\/a><\/li>\n        <li><a href=\"#c2-3\">Monosomy is a condition in which one of the two chromosomes is missing<\/a><\/li>\n      <\/ul>\n    <\/li>\n    <li><a href=\"#c3\">Types of monosomy diseases<\/a>\n      <ul>\n        <li><a href=\"#c3-1\">Turner syndrome, a common sex chromosome monosomy<\/a><\/li>\n        <li><a href=\"#c3-2\">Autosomal monosomy is rare<\/a><\/li>\n      <\/ul>\n    <\/li>\n    <li><a href=\"#c4\">Partial chromosome deletion<\/a>\n      <ul>\n        <li><a href=\"#c4-1\">Structural abnormality of chromosome 22<\/a>\n          <ul>\n            <li><a href=\"#c4-1-1\">22q13 deletion syndrome<\/a><\/li>\n            <li><a href=\"#c4-1-2\">22q11.2 deletion syndrome<\/a><\/li>\n          <\/ul>\n        <\/li>\n      <\/ul>\n    <\/li>\n    <li><a href=\"#c5\">Difference in lifespan between trisomy and partial deletion<\/a>\n      <ul>\n        <li><a href=\"#c5-1\">Trisomy is a condition in which there are too many chromosomes<\/a><\/li>\n        <li><a href=\"#c5-2\">Comparing the lifespan of partial deletions and trisomies<\/a>\n          <ul>\n            <li><a href=\"#c5-2-1\">The lifespan of people with sex chromosome trisomy is the same as that of healthy people<\/a><\/li>\n            <li><a href=\"#c5-2-2\">The lifespan of people with autosomal trisomy tends to be shorter than that of healthy people<\/a>\n              <ul>\n                <li><a href=\"#c5-2-2-1\">Trisomy 21 (Down syndrome)<\/a><\/li>\n                <li><a href=\"#c5-2-2-2\">Trisomy 13 (Patau syndrome)<\/a><\/li>\n                <li><a href=\"#c5-2-2-3\">Trisomy 18 (Edwards syndrome)<\/a><\/li>\n              <\/ul>\n            <\/li>\n          <\/ul>\n        <\/li>\n      <\/ul>\n    <\/li>\n    <li><a href=\"#c6\">Only Hiro Clinic NIPT can test for trisomy and monosomy at the same time<\/a><\/li>\n  <\/ul>\n  <button class=\"toc_more\">Open table of contents<\/button>\n<\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Preparing_for_the_new_baby\" >Preparing for the new baby<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Monosomy_is_a_condition_in_which_there_are_not_enough_chromosomes\" >Monosomy is a condition in which there are not enough chromosomes<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Chromosomes_are_the_place_where_the_human_blueprint_is\" >Chromosomes are the place where the human blueprint is<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Humans_have_46_chromosomes_2_per_group\" >Humans have 46 chromosomes (2 per group)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Monosomy_is_the_absence_of_one_of_two_chromosomes\" >Monosomy is the absence of one of two chromosomes<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Types_of_Monosomy\" >Types of Monosomy<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Turner_syndrome_a_common_sex_chromosome_monosomy\" >Turner syndrome, a common sex chromosome monosomy<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Autosomal_monosomy_is_rare\" >Autosomal monosomy is rare<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Chromosome_deletion\" >Chromosome deletion<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Structural_abnormalities_of_chromosome_22\" >Structural abnormalities of chromosome 22<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#22q13_deletion_syndrome\" >22q13 deletion syndrome<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#22q112_deletion_syndrome\" >22q11.2 deletion syndrome<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Differences_in_life_expectancy_between_trisomy_and_partial_deletion\" >Differences in life expectancy between trisomy and partial deletion<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Trisomy_is_a_condition_in_which_there_are_too_many_chromosomes\" >Trisomy is a condition in which there are too many chromosomes<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Comparing_lifespan_of_partial_deletions_and_trisomies\" >Comparing lifespan of partial deletions and trisomies<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Life_expectancy_of_individuals_with_sex_chromosome_trisomy_is_the_same_as_that_of_healthy_individuals\" >Life expectancy of individuals with sex chromosome trisomy is the same as that of healthy individuals<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Life_expectancy_of_individuals_with_autosomal_trisomy_tends_to_be_shorter_than_that_of_healthy_individuals\" >Life expectancy of individuals with autosomal trisomy tends to be shorter than that of healthy individuals<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\/#Hiro_Clinic_NIPT_is_the_only_place_where_you_can_test_for_trisomy_and_monosomy_at_the_same_time\" >Hiro Clinic NIPT is the only place where you can test for trisomy and monosomy at the same time.<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\" id=\"c1\"><span class=\"ez-toc-section\" id=\"Preparing_for_the_new_baby\"><\/span><strong>Preparing for the new baby<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>&#8220;Is there anything I can do for the baby even before it&#8217;s born?&#8221; &#8220;<br>I&#8217;m doing moderate exercise and being careful about what I eat, but&#8230;&#8221;<br>&#8220;I&#8217;m the only one making my wife go through all the hardships, and I wonder if there&#8217;s anything I can do&#8230;&#8221;<\/p>\n\n\n\n<p>As a solution to your worries, let me suggest genetic testing for your baby.<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt\/nipt\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u77e5\u7684\u969c\u304c\u3044\u304c\u308f\u304b\u308bNIPT\u3068\u306f\uff08NIPT\u306e\u57fa\u672c\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u884c\u3063\u3066\u3044\u308bNIPT\u306e\u307e\u3068\u3081\u3067\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306eNIPT\u3067\u306f\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u969c\u5bb3\u3092\u4f34\u3046\u591a\u6570\u306e\u75be\u60a3\u3092\u51fa\u751f\u524d\u306b\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>When it comes to genetic testing, testing for trisomy is well known,<br>but chromosomal abnormalities include not only trisomy but also monosomy.<\/p>\n\n\n\n<p>The reason we recommend testing is so that you can start preparing for the arrival of your baby.<\/p>\n\n\n\n<p>For example, if a test reveals that your baby has a chromosomal abnormality,<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Organize your living environment<\/li>\n\n\n\n<li>Find a support organization<\/li>\n\n\n\n<li>Find a suitable medical institution for treatment<\/li>\n<\/ul>\n\n\n\n<p>As a parent, there are many preparations you need to make.<\/p>\n\n\n\n<p>Imagine if you didn&#8217;t know your child had a chromosomal abnormality beforehand.<br>The child would probably continue to suffer from symptoms until you noticed. Furthermore, if you<br>were to suddenly find out that your child had an illness, you would probably panic.<br>It is well known from recent disasters that people tend to turn a blind eye or make poor decisions in an emergency situation when they panic.<\/p>\n\n\n\n<p><br>However&nbsp;, if you know your baby&#8217;s genetic information before he or she is born, you can start preparing today.&nbsp;Your support is especially important when it&nbsp;<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=en\">comes to the symptoms of monosomy<\/a><br>. Your actions will determine how comfortable your child will be.<\/p>\n\n\n\n<p>By reading this article, you will understand:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>What is Monosomy?<\/li>\n\n\n\n<li>About partial deletions<\/li>\n\n\n\n<li>Lifespan of partial chromosome deletions and trisomies<\/li>\n\n\n\n<li>Clinics and tests that can provide trisomy and monosomy test results<\/li>\n<\/ul>\n\n\n\n<p>If you want to make your newborn baby happy<br>, this article provides information for you.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c2\"><span class=\"ez-toc-section\" id=\"Monosomy_is_a_condition_in_which_there_are_not_enough_chromosomes\"><\/span>Monosomy is a condition in which there are not enough chromosomes<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-1\"><span class=\"ez-toc-section\" id=\"Chromosomes_are_the_place_where_the_human_blueprint_is\"><\/span>Chromosomes are the place where the human blueprint is<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Chromosomes are found in cells&nbsp;<sup>*1<\/sup>&nbsp;and are where the blueprint for the human body is recorded.<br>The human body is created based on this blueprint.<\/p>\n\n\n\n<p>If there is an abnormality in the chromosomes, it will affect the blueprint.<br>The effect of the blueprint on the human body can cause a variety of malfunctions.<\/p>\n\n\n\n<p>For example, if the blueprint were rewritten or parts were missing, the things the human body needs would not be produced.<\/p>\n\n\n\n<p>This means that you may be lacking something that is essential to life.<\/p>\n\n\n\n<p>*1 Cell: The smallest part that makes up the human body.<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2021\/12\/sensyokutai-min.png\" alt=\"\u30e2\u30ce\u30bd\u30df\u30fc\u3000\u67d3\u8272\u4f53\u304c\u8db3\u308a\u3066\u3044\u306a\u3044\u72b6\u614b\" class=\"wp-image-20902\"\/><\/figure><\/div>\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-2\"><span class=\"ez-toc-section\" id=\"Humans_have_46_chromosomes_2_per_group\"><\/span>Humans have 46 chromosomes (2 per group)<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Humans have two types of chromosomes, totaling 46.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Two sex chromosomes<\/li>\n\n\n\n<li>44 autosomes<\/li>\n<\/ul>\n\n\n\n<p>Here is the breakdown.<\/p>\n\n\n\n<p>Sex chromosomes are related to a person&#8217;s gender, and whether they are male or female is determined by what sex chromosomes they have.<br>Autosomes are chromosomes other than the sex chromosomes.<\/p>\n\n\n\n<p>Furthermore, chromosomes are divided into groups of two:<br>one group for sex chromosomes and 22 groups for autosomes.<\/p>\n\n\n\n<p>Autosomes are grouped into numbers 1 to 22, and the lower the number, the larger the chromosome.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-3\"><span class=\"ez-toc-section\" id=\"Monosomy_is_the_absence_of_one_of_two_chromosomes\"><\/span>Monosomy is the absence of one of two chromosomes<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The absence of one chromosome in one group is not normal for the human body.<\/p>\n\n\n\n<p>For example, a bicycle can be ridden because it has two tires.<br>However, if one tire is stolen or the bicycle comes off the road, you will not be able to ride the bicycle properly.<\/p>\n\n\n\n<p>Two chromosomes function normally to create the human body.<br>However, if only one chromosome is functioning, the blueprint for the human body is insufficient.<br>This insufficient blueprint can cause various malfunctions in the human body.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c3\"><span class=\"ez-toc-section\" id=\"Types_of_Monosomy\"><\/span>Types of Monosomy<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Monosomy can occur in both sex chromosomes and autosomes.<br>The type of disease varies depending on which chromosome monosomy occurs in.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-1\"><span class=\"ez-toc-section\" id=\"Turner_syndrome_a_common_sex_chromosome_monosomy\"><\/span>Turner syndrome, a common sex chromosome monosomy<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Turner syndrome accounts for the majority of all monosomy disorders.<\/p>\n\n\n\n<p>Turner syndrome symptoms are mild,<br>but without parental support, children may not feel comfortable.<\/p>\n\n\n\n<p>Turner syndrome occurs only in girls or women.<br>It is an incurable disease that can cause spontaneous abortions and is a condition in which one of the two sex chromosomes is completely missing.<\/p>\n\n\n\n    <a href=\"\/nipt\/turner-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30bf\u30fc\u30ca\u30fc\u75c7\u5019\u7fa4(\u30e2\u30ce\u30bd\u30df\u30fc\uff38)\u3068\u306f\u2026\u8d64\u3061\u3083\u3093\u306e\u89aa\u306a\u3089\u77e5\u308b\u3079\u304d\u3053\u3068\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u6027\u67d3\u8272\u4f53\u7570\u5e38\u306e1\u3064\u3001\u30bf\u30fc\u30ca\u30fc\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\r\n\u5973\u306e\u5b50\u304c\u3044\u308b\u5bb6\u5ead\u3001\u307e\u305f\u306f\u598a\u5a20\u3057\u3066\u3044\u308b\u65b9\u306b\u3068\u3063\u3066\u3001\u30bf\u30fc\u30ca\u30fc\u75c7\u5019\u7fa4\u306e\u77e5\u8b58\u306f\u6709\u76ca\u3067\u3059...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>If you provide your child with adequate support, their life expectancy will be comparable to that of a healthy person.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-2\"><span class=\"ez-toc-section\" id=\"Autosomal_monosomy_is_rare\"><\/span>Autosomal monosomy is rare<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Monosomy can also occur in autosomes.<\/p>\n\n\n\n<p>However, since many miscarriages occur early in pregnancy, it is difficult to detect.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c4\"><span class=\"ez-toc-section\" id=\"Chromosome_deletion\"><\/span>Chromosome deletion<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Monosomy can easily be confused with&nbsp;<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">partial deletions<\/a>&nbsp;.<\/p>\n\n\n\n<p>Monosomy is an abnormality in the number of chromosomes, where one of the paired chromosomes is missing.<br>On the other hand, when part of one of the paired chromosomes is missing, it&nbsp;is called&nbsp;<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">a partial deletion .<\/a><\/p>\n\n\n\n<p>For example, let&#8217;s replace two chromosomes with two books (A and B).<\/p>\n\n\n\n<p>Book A has 100 pages, but book B is missing 5 of the 100 pages.<\/p>\n\n\n\n<p>In other words, there are two books, but one of them has some defects.<\/p>\n\n\n\n<p>These chromosomal abnormalities are called structural abnormalities, as opposed to monosomies and trisomies, which are numerical abnormalities.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-1\"><span class=\"ez-toc-section\" id=\"Structural_abnormalities_of_chromosome_22\"><\/span>Structural abnormalities of chromosome 22<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">Structural abnormalities of chromosome 22<\/a>&nbsp;occur in the 22nd group of autosomes, in which one of the two chromosomes is partially non-functional.<\/p>\n\n\n\n<p>22q13 and 22q11.2 are<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Autosome group 22<\/li>\n\n\n\n<li>q is the chromosome with the long arm (chromosomes have long and short arms)<\/li>\n<\/ul>\n\n\n\n<p>They&#8217;re the same up to that point, but the difference is in the non-functional area beyond that.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c4-1-1\"><span class=\"ez-toc-section\" id=\"22q13_deletion_syndrome\"><\/span>22q13 deletion syndrome<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\"><\/a>Symptoms of&nbsp;<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">22q13 deletion syndrome include:<\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Decreased muscle tone in the neonatal period&nbsp;<sup>*1<\/sup><\/li>\n\n\n\n<li>Global developmental delay<\/li>\n\n\n\n<li>Excessive growth<\/li>\n\n\n\n<li>Absence or delay in speech<\/li>\n<\/ul>\n\n\n\n<p>However, it is believed that there are no life-threatening organ abnormalities.<br><br>*1 Decreased muscle tone: A condition in which muscles are difficult to move. In babies, this can mean that they have difficulty holding their head up, and they may have a weak cough, making them more susceptible to pneumonia.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c4-1-2\"><span class=\"ez-toc-section\" id=\"22q112_deletion_syndrome\"><\/span>22q11.2 deletion syndrome<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\"><\/a>Symptoms of&nbsp;<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">22q11.2 deletion syndrome include:<\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Mental development disorder<\/li>\n\n\n\n<li>Congenital heart disease<\/li>\n\n\n\n<li>Immune dysfunction<\/li>\n\n\n\n<li>Distinctive facial features<\/li>\n\n\n\n<li>Learning disabilities<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a><\/li>\n<\/ul>\n\n\n\n<p>If you have a 22q11.2 abnormality, your life expectancy will vary depending on how severe your congenital heart disease is,<br>which often includes tetramicro of Fallot and interrupted aortic arch.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c5\"><span class=\"ez-toc-section\" id=\"Differences_in_life_expectancy_between_trisomy_and_partial_deletion\"><\/span>Differences in life expectancy between trisomy and partial deletion<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c5-1\"><span class=\"ez-toc-section\" id=\"Trisomy_is_a_condition_in_which_there_are_too_many_chromosomes\"><\/span>Trisomy is a condition in which there are too many chromosomes<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>In the sex chromosome group and the autosome group 1-22, two chromosomes per group are normal, right?<br>However, trisomy is a condition in which there are three chromosomes per group, so there are more blueprints for the human body.<br><br>As a result, the excess chromosomes have various adverse effects on the human body.<\/p>\n\n\n\n<p>In other words, whether the number of chromosomes in a group is one, three or more, it will cause physical abnormalities.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c5-2\"><span class=\"ez-toc-section\" id=\"Comparing_lifespan_of_partial_deletions_and_trisomies\"><\/span>Comparing lifespan of partial deletions and trisomies<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>When comparing partial deletions and trisomies, trisomy tends to result in a shorter life span.<\/p>\n\n\n\n<p>This is because diseases caused by trisomy are more severe than those caused by partial deletion.<br><br>The life expectancy of partial deletion depends on the progression of congenital heart disease, but many of the other symptoms are not life-threatening.<br>In addition, the number of cases is currently small.<\/p>\n\n\n\n<p>Therefore, looking at partial deletions and trisomies as a whole, trisomies tend to have a shorter life expectancy.<\/p>\n\n\n\n<p>Trisomy can also occur in both sex chromosomes and autosomes.<br>Trisomy occurring in autosomes is said to result in a shorter lifespan than in sex chromosomes.<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2021\/12\/kodomo-min.png\" alt=\"\u30c8\u30ea\u30bd\u30df\u30fc\u3068\u90e8\u5206\u6b20\u5931\u306e\u5bff\u547d\u306e\u9055\u3044\" class=\"wp-image-20905\"\/><\/figure><\/div>\n\n\n<h4 class=\"wp-block-heading\" id=\"c5-2-1\"><span class=\"ez-toc-section\" id=\"Life_expectancy_of_individuals_with_sex_chromosome_trisomy_is_the_same_as_that_of_healthy_individuals\"><\/span>Life expectancy of individuals with sex chromosome trisomy is the same as that of healthy individuals<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Symptoms of sex chromosome trisomy are often mild, and as long as you are careful to avoid complications, your life expectancy will be no different from that of a healthy person.<\/p>\n\n\n\n<p>Sex chromosome trisomies include<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/klinefelter-syndrome\/?lang=en\">Klinefelter syndrome<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/triple-x-syndrome\/?lang=en\">XXX Syndrome<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xyy-syndrome\/?lang=en\">XYY syndrome (Jakob syndrome)<\/a><\/li>\n<\/ul>\n\n\n\n<p>There is.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c5-2-2\"><span class=\"ez-toc-section\" id=\"Life_expectancy_of_individuals_with_autosomal_trisomy_tends_to_be_shorter_than_that_of_healthy_individuals\"><\/span>Life expectancy of individuals with autosomal trisomy tends to be shorter than that of healthy individuals<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>In this section, we will explain the three trisomies that account for 70% of autosomal trisomies.<\/p>\n\n\n\n<p>in particular,<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-down-syndrome\/?lang=en\">Trisomy 21 (Down Syndrome)<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/?lang=en\">Trisomy 13 (Patau syndrome)<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/?lang=en\">Trisomy 18 (Edwards syndrome)<\/a><\/li>\n<\/ul>\n\n\n\n<h5 class=\"wp-block-heading\" id=\"c5-2-2-1\">Trisomy 21 (Down Syndrome)<\/h5>\n\n\n\n<p>The general life expectancy is 50 to 60 years.<br>It accounts for approximately half of the diseases caused by trisomy.<\/p>\n\n\n\n<p>A condition in which there are three chromosomes in the 21st group of autosomes.<\/p>\n\n\n\n<p>Previously, life expectancy was less than 50-60 years, but with advances in medical technology, life expectancy is increasing.<\/p>\n\n\n\n    <a href=\"\/nipt\/about-down-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30c0\u30a6\u30f3\u75c7\uff0821\u30c8\u30ea\u30bd\u30df\u30fc\uff09\u3068\u306f\uff1f\u539f\u56e0\u3084\u7279\u5fb4\u30fb\u691c\u67fb\u65b9\u6cd5\u3092\u89e3\u8aac <\/div>\n          <div class=\"blog-card-excerpt\">\u30c0\u30a6\u30f3\u75c7\uff0821\u30c8\u30ea\u30bd\u30df\u30fc\uff09\u3068\u306f\uff1f\u539f\u56e0\u3084\u7279\u5fb4\u3001\u907a\u4f1d\u306e\u53ef\u80fd\u6027\u3001\u9ad8\u9f62\u51fa\u7523\u3068\u306e\u95a2\u4fc2\u3001\u75c7\u72b6\u3001\u652f\u63f4\u5236\u5ea6\u306a\u3069\u3092\u8a73\u3057\u304f\u89e3\u8aac\u3002\u598a\u5a20\u4e2d\u306e\u4e0d\u5b89\u306b\u5bc4\u308a\u6dfb\u3046\u60c5\u5831\u3092\u63d0\u4f9b...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h5 class=\"wp-block-heading\" id=\"c5-2-2-2\">Trisomy 13 (Patau syndrome)<\/h5>\n\n\n\n<p>Generally, 50% of them have a lifespan of less than one month, and 90% have a lifespan of less than one year.<\/p>\n\n\n\n<p>Most babies born with trisomy 13 end up stillborn, with only about 4% able to give birth.<br>Of these 4%, less than 10% survive for more than a year.<\/p>\n\n\n\n<p>There are three chromosomes in the 13th group of autosomes.<\/p>\n\n\n\n<p>There have been confirmed cases of heart disease and even death.<\/p>\n\n\n\n    <a href=\"\/nipt\/patau-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">13\u30c8\u30ea\u30bd\u30df\u30fc(\u30d1\u30c8\u30a6\u75c7\u5019\u7fa4)\u3068\u306f\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">13\u30c8\u30ea\u30bd\u30df\u30fc\u306f\u30d1\u30c8\u30a6\u75c7\u5019\u7fa4\u3068\u3082\u3044\u3044\u30015,000\u4eba\u301c12,000\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u751f\u307e\u308c\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u5148\u5929\u7684\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u3067\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h5 class=\"wp-block-heading\" id=\"c5-2-2-3\">Trisomy 18 (Edwards syndrome)<\/h5>\n\n\n\n<p>Generally, 90% of them have a lifespan of less than one year.<\/p>\n\n\n\n<p>A condition in which there are three chromosomes in the 18th group of autosomes.<\/p>\n\n\n\n<p>Most babies with trisomy 18 are stillborn.<\/p>\n\n\n\n<p>In cases where stillbirth does not occur, in addition to heart disease,<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Pulmonary and respiratory complications<\/li>\n\n\n\n<li>\u6d88\u5316\u5668\u5408\u4f75\u75c7<\/li>\n\n\n\n<li>Urinary complications<\/li>\n\n\n\n<li>Malignant tumors<\/li>\n<\/ul>\n\n\n\n<p>There is a risk of many complications.<\/p>\n\n\n\n    <a href=\"\/nipt\/edwards-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">18\u30c8\u30ea\u30bd\u30df\u30fc\uff08\u30a8\u30c9\u30ef\u30fc\u30ba\u75c7\u5019\u7fa4\uff09\u3068\u306f\uff1f\u75c7\u72b6\u30fb\u6cbb\u7642\u6cd5\u30fb\u4e88\u5f8c\u3092\u89e3\u8aac\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u3010\u533b\u5e2b\u76e3\u4fee\u301118\u30c8\u30ea\u30bd\u30df\u30fc\uff08\u30a8\u30c9\u30ef\u30fc\u30ba\u75c7\u5019\u7fa4\uff09\u306e\u539f\u56e0\u3068\u75c7\u72b6\u30fb\u691c\u67fb\u65b9\u6cd5\u3092\u8a73\u3057\u304f\u89e3\u8aac\uff0f\u8a3a\u65ad\u5f8c\u306e\u5bb6\u65cf\u306e\u5fc3\u306e\u6301\u3061\u65b9\u3084\u6e96\u5099\u306b\u3064\u3044\u3066\u3082\u898b\u3066\u3044\u304d\u307e\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c6\"><span class=\"ez-toc-section\" id=\"Hiro_Clinic_NIPT_is_the_only_place_where_you_can_test_for_trisomy_and_monosomy_at_the_same_time\"><\/span>Hiro Clinic NIPT is the only place where you can test for trisomy and monosomy at the same time.<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Why not try&nbsp;<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\">Hiro Clinic NIPT<\/a>&nbsp;for your future baby ?<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\">The reason we use Hiro Clinic NIPT<\/a>&nbsp;is that it can obtain monosomy test results along with trisomy results with less risk to the mother.<\/p>\n\n\n\n<p>In order to obtain monosomy results at another hospital, tests that pose risks to the fetus and mother, such as amniocentesis and chorionic villus sampling, must be performed.<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/turner-syndrome\/?lang=en\">For example, Turner syndrome<\/a>&nbsp;caused by monosomy&nbsp;will determine how comfortable your child will be depending on your support.&nbsp;<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\">Hiro Clinic NIPT<\/a>&nbsp;is a system that helps you make choices and prepare before the baby is born.<br>It&#8217;s the perfect test for you who want to prepare in advance for the happiness of your baby.<\/p>\n\n\n<p style=\"width:100%;max-width:300px;margin:0 auto;\"><a href=\"\/nipt\/\" class=\"content-bnr about\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/themes\/hiro_nipt\/img\/banner\/nipt04pc.png\" alt=\"\u80ce\u5150\u306e\u6027\u5225\u306f10\u9031\u76ee\u3067\u308f\u304b\u308b\"><\/a> <\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p>\u3010References\u3011<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Japan Society of Obstetrics and Gynecology \u2013&nbsp;<a href=\"https:\/\/www.jaog.or.jp\/note\/2%EF%BC%8E%E6%9F%93%E8%89%B2%E4%BD%93%E7%95%B0%E5%B8%B8\/\" target=\"_blank\" rel=\"noreferrer noopener\">Chromosomal Abnormalities<\/a><\/li>\n\n\n\n<li>Orphanet French National Institute of Health and Medical Research \u2013&nbsp;<a href=\"https:\/\/www.orpha.net\/data\/patho\/Pro\/other\/22q13monosomi_JP_ja_PRO_ORPHA48652.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">Monosomy 22q13<\/a><\/li>\n\n\n\n<li>Orphanet French National Institute of Health and Medical Research \u2013&nbsp;<a href=\"https:\/\/www.orpha.net\/data\/patho\/Pro\/other\/21monosomi_JP_ja_PRO_ORPHA574.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">Monosomy 21<\/a><\/li>\n\n\n\n<li>MSD Manual \u2013&nbsp;<a href=\"https:\/\/www.msdmanuals.com\/ja-jp\/%E3%83%9B%E3%83%BC%E3%83%A0\/23-%E5%B0%8F%E5%85%90%E3%81%AE%E5%81%A5%E5%BA%B7%E4%B8%8A%E3%81%AE%E5%95%8F%E9%A1%8C\/%E6%9F%93%E8%89%B2%E4%BD%93%E7%95%B0%E5%B8%B8%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%90%E7%95%B0%E5%B8%B8\/18%E3%83%88%E3%83%AA%E3%82%BD%E3%83%9F%E3%83%BC\" target=\"_blank\" rel=\"noreferrer noopener\">Trisomy 18<\/a><\/li>\n\n\n\n<li>Rare Disease Information Center \u2013&nbsp;<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5318\" target=\"_blank\" rel=\"noreferrer noopener\">22q11.2 Deletion Syndrome<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"Preparing to welcome&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-monosomy\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":25207,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-85028","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85028","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=85028"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85028\/revisions"}],"predecessor-version":[{"id":85031,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85028\/revisions\/85031"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/25207"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=85028"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=85028"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=85028"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}