3p 缺失综合征。
3p deletion syndrome.
机构信息
Department of Human Genetics, Guru Nanak Dev University; and , *39-C, Circular Road; Amritsar, Punjab, India. Correspondence to: Dr Anupam Kaur, Reader, Human Genetics, Guru Nanak Dev University Amritsar, Punjab 143 005, India.
出版信息
Indian Pediatr. 2013 Aug;50(8):795-6.
PMID:24036645
Abstract
3p deletion is a rare cytogenetic finding. Here we describe a 3 months old male with congenital malformations. His karyotype revealed 3p deletion 46,XY,del(3)(p25-pter). The child had flexion deformity of wrist and elbow which has never been reported before.
摘要
3p 缺失是一种罕见的细胞遗传学发现。在这里，我们描述了一名 3 个月大的男性患有先天性畸形。他的核型显示 3p 缺失 46,XY,del(3)(p25-pter)。患儿有手腕和肘部的弯曲畸形，这在此前的报道中从未出现过。
Zotero 插件