新发16号染色体短臂三体

De novo trisomy 16p.

作者信息

Carrasco Juan J L, Cigudosa J C, Otero Gómez A, Acosta Almeida M T, García Miranda J L

机构信息

Cytogenetics Service, Faculty of Medicine, University of La Laguna, Tenerife, Canary Islands, Spain.

出版信息

Am J Med Genet. 1997 Jan 20;68(2):219-21. doi: 10.1002/(sici)1096-8628(19970120)68:2<219::aid-ajmg19>3.3.co;2-a.

DOI:10.1002/(sici)1096-8628(19970120)68:2<219::aid-ajmg19>3.3.co;2-a

PMID:9028462

Abstract

We report on a patient with psychomotor retardation and a pattern of malformations comprising single umbilical artery, craniofacial anomalies, severe truncal hypotonia, and lower-limb hyporreflexia. G-banding cytogenetics demonstrated a 16p+ chromosome. Parental chromosomes were normal. The use of fluorescent in situ hybridization (FISH) showed that this extra material derived from chromosome 16. High-resolution G-banding demonstrated a duplicated segment on the 16p arm, confirming our suspicion of a de novo tandem duplication; hence, the cytogenetic diagnosis was given as 46,XY,dir dup(16)(p11.2-->p12).

摘要

我们报告了一名患有精神运动发育迟缓及一系列畸形的患者，这些畸形包括单脐动脉、颅面异常、严重的躯干肌张力减退和下肢反射减弱。G显带细胞遗传学检查显示有一条16p+染色体。父母的染色体正常。荧光原位杂交（FISH）结果表明，这条额外的物质来源于16号染色体。高分辨率G显带显示16p臂上有一个重复片段，证实了我们对新发串联重复的怀疑；因此，细胞遗传学诊断结果为46,XY,dir dup(16)(p11.2→p12)。