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

• Main Authors: Juliana F. Mazzeu, Ana Cristina Krepischi-Santos, Carla Rosenberg, Charles M. Lourenço, Karina Lezirovitz, Karoly Szuhai, Lúcia R. Martelli, Angela M. Vianna-Morgante
• Format: Article
• Language: English
• Published: Sociedade Brasileira de Genética 2007-03-01
• Series: Genetics and Molecular Biology
• Subjects: Pitt-Rogers-Danks syndrome; Robinow syndrome; translocation t(4;8); Wolf-Hirschhorn syndrome
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300007
• ISSN: 1415-4757; 1678-4685

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.