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

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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Zusammenfassung: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.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320550109