Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
Genet. mol. biol
;
30(2): 339-342, Mar. 2007. ilus, graf
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
langue:
Anglais
Texte intégral:
Genet. mol. biol
Thème du journal:
Génétique
Année:
2007
Type:
Article
Pays d'affiliation:
Brésil
/
Pays-Bas
Institution/Pays d'affiliation:
Leiden University Medical Center/NL
/
Universidade de São Paulo/BR
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