Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

Autor(es)

Gamba, Bruno F. ; Rosenberg, Carla ; Costa, Silvia ; Richieri-Costa, Antonio ; Ribeiro-Bicudo, Lucilene A.

• Tipo de documento: Artigo Científico
• Fonte: MOLECULAR SYNDROMOLOGY; v. 6, n. 1, p. 39-43, 2015.
• Citações Web of Science: 1

Resumo

The chromosome interval 10p15.3p14 harbors about a dozen genes. This region has been implicated in a few wellknown human phenotypes, namely HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) and DGS2 (DiGeorge syndrome 2), but a number of variable phenotypes have also been reported. Cleft lip/palate seems to be a very unusual finding within the clinical spectrum of patients with this deletion. Here, we report a male child born with short stature, cleft lip/palate, and feeding problems who was found to have a 5.6-Mb deletion at 10p15.3p14. (C) 2015 S. Karger AG, Basel (AU)

• Processo FAPESP: 10/18740-2 - Análise Genética em indivíduos com Holoprosencefalia através das técnicas de MLPA e arrayCGH.
• Beneficiário: Bruno Faulin Gamba
• Modalidade de apoio: Bolsas no Brasil - Doutorado
• Processo FAPESP: 11/07012-9 - Estudo genético molecular em indivíduos com alterações de linha média com hipotelorismo: holoprosencefalia como modelo
• Beneficiário: Lucilene Arilho Ribeiro Bicudo
• Modalidade de apoio: Auxílio à Pesquisa - Regular