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Multicolor chromosomal bar coding characterizes a de novo interstitial deletion (5)(q33.3q35.2) in a child with multiple congenital malformations.

作者信息

Schiffer Christiane, Popp Susanne, Moshir Sharareh, Rupprath Gerhard, Düngfelder Elke, Hager Hans-Dieter, Tariverdian Gholamali, Jauch Anna

机构信息

Institute of Human Genetics, University of Heidelberg, Germany.

出版信息

Clin Dysmorphol. 2003 Apr;12(2):129-31. doi: 10.1097/00019605-200304000-00011.

DOI:10.1097/00019605-200304000-00011
PMID:12868477
Abstract

We describe a boy with multiple congenital anomalies including a complex heart defect, club feet, adducted thumbs, and facial dysmorphic features. He died at the age of 2 months following cardiac surgery. G-banding analysis identified an abnormal chromosome 5q suspected to be an interstitial deletion (5)(q33q35). Breakpoints of the deleted segment were confirmed as del(5)(q33.3q35) by multicolor fluorescence in situ hybridization (FISH) using two sets of combinatorially labeled band specific YAC clones. Findings are discussed in view of previously published cases.

摘要

相似文献

1
Multicolor chromosomal bar coding characterizes a de novo interstitial deletion (5)(q33.3q35.2) in a child with multiple congenital malformations.
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2
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Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35).
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Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen.5号染色体短臂间质缺失，伴有缺失片段的双着丝粒环形成，导致5号染色体短臂13区至着丝粒三体。
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Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.产前诊断5号染色体（q15q31.1）遗传性间质缺失，表现为先天性挛缩性蜘蛛指（趾）症特征。
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Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.6号染色体q24.2-q26末端区域的细微重叠缺失：使用荧光原位杂交技术研究的三例病例
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Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.5q23.3q31.2新发间质性缺失的分子细胞遗传学分析及其表型后果。
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