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Gamba BF, Rosenberg C, Costa S, et al. Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14. Mol Syndromol. 2015;6(1):39-43doi: 10.1159/000371404.
Gamba, B. F., Rosenberg, C., Costa, S., Richieri-Costa, A., & Ribeiro-Bicudo, L. A. (2015). Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14. Molecular syndromology, 6(1), 39-43. https://doi.org/10.1159/000371404
Gamba, Bruno F, et al. "Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14." Molecular syndromology vol. 6,1 (2015): 39-43. doi: https://doi.org/10.1159/000371404
Gamba BF, Rosenberg C, Costa S, Richieri-Costa A, Ribeiro-Bicudo LA. Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14. Mol Syndromol. 2015 Feb;6(1):39-43. doi: 10.1159/000371404. Epub 2015 Jan 22. PMID: 25852446; PMCID: PMC4369120.
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Mol Syndromol. 2015 Feb;6(1):39-43. doi: 10.1159/000371404. Epub 2015 Jan 22.

Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.

Molecular syndromology

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

Affiliations

  1. Department of Genetics, Institute of Biosciences, São Paulo, Brazil.
  2. Department of Genetics and Evolutionary Biology, Institute of Biosciences, São Paulo, Brazil.
  3. Department of Syndromology Division, Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paolo, São Paulo, Brazil.
  4. Department of Genetics, Institute of Biosciences, São Paulo, Brazil ; Department of Genetics, Institute of Biosciences, Federal University of Goias, Goiânia, Brazil.

PMID: 25852446 PMCID: PMC4369120 DOI: 10.1159/000371404

Abstract

The chromosome interval 10p15.3p14 harbors about a dozen genes. This region has been implicated in a few well-known 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.

Keywords: 10p15 deletion; Array-CGH; Cleft lip/palate; DiGeorge syndrome 2

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