医学
颅面
上睑下垂
发育不良
面部畸形
解剖
短乳
长臂
异常
身材矮小
染色体
表型
遗传学
外科
儿科
生物
精神科
基因
作者
CM Kuldeep,Ashok Kumar Khare,Anubhav Garg,Asit Mittal,Lalit Gupta
标识
DOI:10.4103/0019-5154.96203
摘要
Terminal deletion of the long arm of chromosome 4, (4q) is a rare event. It is characterized by spectral phenotypic manifestations, depending upon the site and quantity of chromatin lost. The chromosomal loss which span 4 (q31-q35) segment often manifests as craniofacial anomalies, mental retardation with ocular, cardiac, genitourinary defects and pelvic/limb dysmorphism. These abnormalities are usually unilateral. We report a female child (46, XX), aged 11 months, born to nonconsanguineous parents, bearing chromosomal deletion of 4 (q31.2-35.2) segment, which has manifested as craniofacial hypoplasia of left side of face, ipsilateral ptosis, erythroderma and bilateral thumb anomalies.
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