一名患有部分18号染色体单体和部分16号染色体三体独特组合的儿童出现发育迟缓及多种先天性异常。
Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16.
作者信息
Schmidt N, Van Dyke D C, Keppler-Noreuil K, Muilenburg A, Patil S, Kanis A B
机构信息
Department of Pediatrics, Children's Hospital of Iowa, Iowa, USA.
出版信息
Dev Med Child Neurol. 2001 Feb;43(2):130-2. doi: 10.1017/s0012162201000238.
PMID:11221902
Abstract
A male child with multiple congenital anomalies and developmental delay is described. Cytogenetic evaluation showed that the patient was partially monosomic for the short arm of chromosome 18 and partially trisomic for the short arm of chromosome 16: a combination of chromosomal syndromes not previously described.
摘要
本文描述了一名患有多种先天性异常和发育迟缓的男童。细胞遗传学评估显示，该患者18号染色体短臂部分单体性，16号染色体短臂部分三体性：这是一种此前未被描述过的染色体综合征组合。
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