A complex chromosome translocation resulting in deletion 11 p and associated with uveal colobomata

R. Friling; Y. Yassur; D. Abeliovich; B. Biedner; A. Galil; J. Dagan; R. Carmi

doi:10.3109/13816819509056915

A complex chromosome translocation resulting in deletion 11 p and associated with uveal colobomata

R. Friling, Y. Yassur, D. Abeliovich, B. Biedner, A. Galil, J. Dagan, R. Carmi

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Abstract

A boy with a complex chromosome rearrangement of chromosomes 3, 10, and 11 resulting in a deletion of the short arm of chromosome 11 is presented. The occurrence of uveal coloboma as an isolated congenital malformation might suggest a chromosomal site for this ocular anomaly in proximity to the aniridia locus.

Original language	English
Pages (from-to)	71-74
Number of pages	4
Journal	Ophthalmic Genetics
Volume	16
Issue number	2
DOIs	https://doi.org/10.3109/13816819509056915
State	Published - 1 Jan 1995

Keywords

11 p
Aniridia
Chromosome
Translocation
Uveal coloboma

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology
Genetics(clinical)

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10.3109/13816819509056915

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abstract = "A boy with a complex chromosome rearrangement of chromosomes 3, 10, and 11 resulting in a deletion of the short arm of chromosome 11 is presented. The occurrence of uveal coloboma as an isolated congenital malformation might suggest a chromosomal site for this ocular anomaly in proximity to the aniridia locus.",

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AU - Friling, R.

AU - Yassur, Y.

AU - Abeliovich, D.

AU - Biedner, B.

AU - Galil, A.

AU - Dagan, J.

AU - Carmi, R.

PY - 1995/1/1

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N2 - A boy with a complex chromosome rearrangement of chromosomes 3, 10, and 11 resulting in a deletion of the short arm of chromosome 11 is presented. The occurrence of uveal coloboma as an isolated congenital malformation might suggest a chromosomal site for this ocular anomaly in proximity to the aniridia locus.

AB - A boy with a complex chromosome rearrangement of chromosomes 3, 10, and 11 resulting in a deletion of the short arm of chromosome 11 is presented. The occurrence of uveal coloboma as an isolated congenital malformation might suggest a chromosomal site for this ocular anomaly in proximity to the aniridia locus.

KW - 11 p

KW - Aniridia

KW - Chromosome

KW - Translocation

KW - Uveal coloboma

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A complex chromosome translocation resulting in deletion 11 p and associated with uveal colobomata

Abstract

Keywords

ASJC Scopus subject areas

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