Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
Genet. mol. biol
;
30(2): 339-342, Mar. 2007. ilus, graf
Artículo
en Inglés
| 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:
Disponible
Índice:
LILACS (Américas)
Idioma:
Inglés
Revista:
Genet. mol. biol
Asunto de la revista:
Genética
Año:
2007
Tipo del documento:
Artículo
País de afiliación:
Brasil
/
Países Bajos
Institución/País de afiliación:
Leiden University Medical Center/NL
/
Universidade de São Paulo/BR
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