Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
Genet. mol. biol
;
30(2): 339-342, Mar. 2007. ilus, graf
Artigo
em Inglês
| LILACS
| ID: lil-452808
ABSTRACT
Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS) and Wolf-Hirschhorn syndrome (WHS), the former being considered a milder phenotype of the latter. We describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented by array-comparative genomic hybridization (Array-CGH). In addition to the typical features of PRDS, the patient exhibited some clinical signs (genital hypoplasia, radioulnar synostosis and mesomelic limb shortness) infrequently, or never previously, reported in PRDS. These findings broaden the spectrum of anomalies generally associated with these syndromes.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Idioma:
Inglês
Revista:
Genet. mol. biol
Assunto da revista:
Genética
Ano de publicação:
2007
Tipo de documento:
Artigo
País de afiliação:
Brasil
/
Holanda
Instituição/País de afiliação:
Leiden University Medical Center/NL
/
Universidade de São Paulo/BR
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