Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
| Autor: | Juliana F. Mazzeu, Ana Cristina Krepischi-Santos, Carla Rosenberg, Charles M. Lourenço, Karina Lezirovitz, Karoly Szuhai, Lúcia R. Martelli, Angela M. Vianna-Morgante |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: | |
| Zdroj: | Genetics and Molecular Biology, Vol 30, Iss 2, Pp 339-342 (2007) |
| Druh dokumentu: | article |
| ISSN: | 1415-4757 1678-4685 |
| DOI: | 10.1590/S1415-47572007000300007 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|