Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.
J Med Genet
; 34(8): 692-5, 1997 Aug.
Article
em En
| MEDLINE
| ID: mdl-9279767
ABSTRACT
A very short, microcephalic, and mentally retarded 2 year old girl showed minor anomalies including prominent occiput, delayed closure of the anterior fontanelle, high frontal hairline, prominent ears, upward slanting palpebral fissures, a small nose with bulbous tip, delayed tooth eruption and bone maturation, and short and tapering fingers and toes. She did not have a white forelock. Cytogenetic investigation disclosed a de novo unbalanced translocation between chromosomes 4 and 18 with deletion of 4q12-->q21.1. Molecular investigation showed lack of a paternal allele for the microsatellite markers D4S392 and D4S398. This case shows indirect evidence that the piebald gene maps to proximal 4q12.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
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Anormalidades Múltiplas
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Cromossomos Humanos Par 4
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Piebaldismo
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
1997
Tipo de documento:
Article
País de afiliação:
Suíça