Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting

The combined use of high resolution banding and chromosome painting techniques allowed us to identify a reciprocal translocation involving chromosomes 3 and 20 and simultaneous interstitial deletion of chromosome 3 in a patient with several minor anomalies of the face and hands. His karyotype is des...

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Veröffentlicht in:	American Journal of Medical Genetics 1995-01, Vol.55 (1), p.27-29
Hauptverfasser:	Crispino, Beatriz, Cardoso, Horacio, Mimbacas, Adriana, Méndez, Virginia
Format:	Artikel
Sprache:	eng
Schlagworte:	20 BANDING TECHNIQUES BIOLOGY AND MEDICINE, BASIC STUDIES CHROMOSOMAL ABERRATIONS chromosome aberrations Chromosome Banding Chromosome Deletion chromosome painting Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 3 CONGENITAL MALFORMATIONS del Ear - abnormalities Face - abnormalities GENES HUMAN CHROMOSOME 3 Humans Infant, Newborn KARYOTYPE Karyotyping Male PATIENTS t(3 20) Translocation, Genetic - genetics
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creator	Crispino, Beatriz Cardoso, Horacio Mimbacas, Adriana Méndez, Virginia
description	The combined use of high resolution banding and chromosome painting techniques allowed us to identify a reciprocal translocation involving chromosomes 3 and 20 and simultaneous interstitial deletion of chromosome 3 in a patient with several minor anomalies of the face and hands. His karyotype is described as 46,XY,t(3;20) (p14.2;p12.2),del(3)(p11‐p14.1). © 1995 Wiley‐Liss, Inc.
doi_str_mv	10.1002/ajmg.1320550109
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subjects	20 BANDING TECHNIQUES BIOLOGY AND MEDICINE, BASIC STUDIES CHROMOSOMAL ABERRATIONS chromosome aberrations Chromosome Banding Chromosome Deletion chromosome painting Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 3 CONGENITAL MALFORMATIONS del Ear - abnormalities Face - abnormalities GENES HUMAN CHROMOSOME 3 Humans Infant, Newborn KARYOTYPE Karyotyping Male PATIENTS t(3 20) Translocation, Genetic - genetics
title	Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting
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