Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.,Molecular Genetics & Genomic Medicine

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Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-05-13 , DOI: 10.1002/mgg3.1265
Yaobin Liu ₁ , Beth Mapow ₂

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15q24 microdeletion is a relatively new syndrome caused by nonallelic homologous recombination (NAHR) between low‐copy repeats (LCRs) in the 15q24 chromosome region. This syndrome is characterized by a spectrum of clinical symptoms including global developmental delay, intellectual disability, facial dysmorphisms, and congenital malformations of the extremities, eye, gastrointestinal tract, genitourinary system, and genitalia.

中文翻译：

从头开始15q24微缺失在女性胎儿中泌尿生殖道畸形并存并进行文献复习。

15q24微缺失是一种相对较新的综合征，是由15q24染色体区域中低拷贝重复序列（LCR）之间的非等位基因同源重组（NAHR）引起的。该综合征的特征是一系列临床症状，包括整体发育迟缓，智力残疾，面部畸形和四肢，眼，胃肠道，泌尿生殖系统和生殖器的先天畸形。

更新日期：2020-07-06

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