Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

Genetics and Molecular Biology

Juliana F. Mazzeu²  Ana Cristina Krepischi-santos²  Carla Rosenberg²  Charles M. Lourenço¹  Karina Lezirovitz²  Karoly Szuhai¹  Lúcia R. Martelli¹  Angela M. Vianna-morgante² 

[1] ,Universidade de São Paulo Instituto de Biociências Departamento de Genética e Biologia EvolutivaSão Paulo SP ,Brazil

关键词: Pitt-Rogers-Danks syndrome;    Robinow syndrome;    translocation t(4;    8);    Wolf-Hirschhorn syndrome;   

DOI  :  10.1590/S1415-47572007000300007

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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