| Full text | |
| Author(s): |
Gamba, Bruno F.
;
Rosenberg, Carla
;
Costa, Silvia
;
Richieri-Costa, Antonio
;
Ribeiro-Bicudo, Lucilene A.
Total Authors: 5
|
| 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 |