5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome
期刊名称： American Journal of Medical Genetics Part A辣椒肉丝>八个月的宝宝
作者： Allan Bayat,Michael Bayat,Chantal Broers,Abeltje M. Polstra,Tina Duelund Hjortshj
年份： 2021年
关键词： 5q11.2 microdeletion syndrome;developmental
大雁的诗句delay;DHX29;immunodeficiency;shortest region of overlap
人死了会投胎吗摘要：Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of subjects prent with learning difficulty and/or intellectual disability, immune deficiency, congenital heart malformation, and dysmorphism. DHX29 and
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明清宫苑
沙滩公园IL6ST have been propod as candidate genes for the development of the major clinical manifestations. We prent a new ca and narrow down the shortest region of overlap to evaluate possible candidate genes. Our ca does not prent developmental delay or immune deficiency indicating a reduced penetrance for some of the main clinical manifestations. The shortest region of overlap between subjects with deletions at 5q11.2 is approximately 450 kb (position 54.3–54.7 Mb). The narrowed region compris 10 protein coding genes,
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