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.
AUTOR(ES)
Schinzel, A
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051037Documentos Relacionados
- Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities.
- A new interstitial deletion of 4q (q21.1::q22.1).
- Interstitial deletion, del(4)(q33q35.1), in a mother and two children.
- Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1).
- Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.