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

Author(s)

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

• Document type: Journal article
• Source: MOLECULAR SYNDROMOLOGY; v. 6, n. 1, p. 39-43, 2015.
• Web of Science Citations: 1

Abstract

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)

• FAPESP's process: 10/18740-2 - Genetical analysis in patients with Holoprosencephaly by MLPA and arrayCGH techniques.
• Grantee: Bruno Faulin Gamba
• Support Opportunities: Scholarships in Brazil - Doctorate
• FAPESP's process: 11/07012-9 - Molecular genetic study in individuals with midline malformations and hypotelorism: holoprosencephaly as a model
• Grantee: Lucilene Arilho Ribeiro Bicudo
• Support Opportunities: Regular Research Grants