视网膜母细胞瘤、严重的内部畸形以及13号染色体长臂14区至31区的缺失。 - Suppr

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Retinoblastoma, gross internal malformations, and deletion 13q14 leads to q31.

作者信息

Yunis E, Zuñiga R, Ramírez E

出版信息

Hum Genet. 1981;56(3):283-6. doi: 10.1007/BF00274680.

DOI:10.1007/BF00274680

PMID:7239512

Abstract

摘要

相似文献

Retinoblastoma, gross internal malformations, and deletion 13q14 leads to q31.

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[The 13q14 deletion syndrome].

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Incidence and significance of a deletion of chromosome band 13q14 in patients with retinoblastoma and in their families.

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Interstitial deletion of chromosome 13 involving the region 13q14.

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Retinoblastoma and subband deletion of chromosome 13.

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High rate of detection of 13q14 deletion mosaicism among retinoblastoma patients (using more extensive methods).

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引用本文的文献

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Deletion of 13q in two patients with retinoblastoma, one probably due to 13q-mosaicism in the mother.

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Retinoblastoma in a boy with a de novo mutation of a 13/18 translocation: the assumption that the retinoblastoma locus is at 13q141, particularly at the distal portion of it.

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Interstitial del(13)(q21.3q31) associated with psychomotor retardation, eczema, and absent suck and swallowing reflex.

J Med Genet. 1987 Dec;24(12):786-8. doi: 10.1136/jmg.24.12.786.

Interstitial deletion of distal 13q associated with Hirschsprung's disease.

J Med Genet. 1989 Feb;26(2):100-4. doi: 10.1136/jmg.26.2.100.

本文引用的文献

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