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| Mazzeu,Juliana F.; Krepischi-Santos,Ana Cristina; Rosenberg,Carla; Lourenço,Charles M.; Lezirovitz,Karina; Szuhai,Karoly; Martelli,Lúcia R.; Vianna-Morgante,Angela M.. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Pitt-Rogers-Danks syndrome Robinow syndrome translocation t(4; 8) Wolf-Hirschhorn syndrome. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300007 |
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| Pardono,Eliete; Mazzeu,Juliana F.; Lezirovitz,Karina; Auricchio,Maria Teresa B.M.; Iughetti,Paula; Nascimento,Rafaella M.P.; Mingroni-Netto,Regina C.; Otto,Paulo A.. |
| We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c.764-776del(TTACCCTGACATT), in exon 5. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Waardenburg syndrome; PAX3 gene; Incomplete penetrance; Sensorineural hearing impairment; Telecanthus. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003 |
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