Terminal 14q32.33 deletion: genotype-phenotype correlation.
Am J Med Genet A
; 140(21): 2324-9, 2006 Nov 01.
Article
em En
| MEDLINE
| ID: mdl-17022077
ABSTRACT
We report on a female infant presenting with psychomotor retardation and facial dysmorphism. Cytogenetic studies showed an abnormal chromosome 14 with ectopic NOR sequences at the extremity of the long arm with a terminal 14q32.33 deletion. Review of the eight cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. Thus, genotype-phenotype correlation allows us to delimit the critical region for mental retardation, hypotonia, epi-telecanthus, short bulbous nose, long philtrum, thin upper lip, and small mouth observed in 14 qter deletions to the subtelomeric 1.6 Mb of chromosome 14.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 14
/
Deleção Cromossômica
Limite:
Child, preschool
/
Female
/
Humans
/
Infant
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article