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6号染色体长臂部分重复：一种临床可识别的综合征。

Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

作者信息

Pivnick E K, Qumsiyeh M B, Tharapel A T, Summitt J B, Wilroy R S

机构信息

Department of Pediatrics, University of Tennessee, Memphis 38163.

出版信息

J Med Genet. 1990 Aug;27(8):523-6. doi: 10.1136/jmg.27.8.523.

DOI:10.1136/jmg.27.8.523
PMID:2213846
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017204/
Abstract

Reciprocal translocations involving the short arm of acrocentric chromosomes can segregate to produce partial duplications without associated deletions. We present a case of an infant with a 46,XY,-15,+der(15),T(6;15)(q23;p12)pat chromosome complement. The infant had multiple congenital abnormalities including cranial anomalies, facial dysmorphism, anterior webbing of the neck, cardiac anomalies, and joint contractures. From a comparison of the infant's phenotype with 20 other patients with a similar duplication, it is evident that partial duplication of the long arm of chromosome 6 is a clinically diagnosable syndrome.

摘要

涉及近端着丝粒染色体短臂的相互易位可分离产生无相关缺失的部分重复。我们报告一例46,XY,-15,+der(15),T(6;15)(q23;p12)pat染色体核型的婴儿。该婴儿有多种先天性异常，包括颅骨异常、面部畸形、颈部前方蹼状畸形、心脏异常和关节挛缩。通过将该婴儿的表型与其他20例具有相似重复的患者进行比较，很明显6号染色体长臂的部分重复是一种临床可诊断的综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d8f/1017204/c4fa75f481c5/jmedgene00046-0052-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d8f/1017204/b9498d71c0a6/jmedgene00046-0051-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d8f/1017204/c4fa75f481c5/jmedgene00046-0052-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d8f/1017204/b9498d71c0a6/jmedgene00046-0051-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d8f/1017204/c4fa75f481c5/jmedgene00046-0052-a.jpg

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Am J Med Genet. 1980;5(2):171-8. doi: 10.1002/ajmg.1320050211.
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