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

Bruno F Gamba1, Carla Rosenberg2, Silvia Costa2

  • 1Department of Genetics, Institute of Biosciences, São Paulo, Brazil.

Molecular Syndromology
|April 9, 2015
PubMed

Insights

A 5.6-Mb deletion in chromosome 10p15.3p14 was identified in a male infant with short stature and cleft lip/palate. This finding expands the known clinical spectrum associated with 10p deletions.

Area of Science:

  • Genetics
  • Human Phenotypes
  • Chromosomal Abnormalities

Background:

  • The 10p15.3p14 chromosomal region contains several genes and is associated with known syndromes like HDR syndrome and DiGeorge syndrome 2.
  • Phenotypic variability is common in individuals with deletions in this region.

Observation:

  • A male infant presented with short stature, cleft lip/palate, and feeding difficulties.
  • Genetic analysis revealed a 5.6-megabase deletion in the 10p15.3p14 region.

Findings:

  • Cleft lip/palate is an uncommon feature within the spectrum of phenotypes linked to 10p deletions.
  • This case highlights a novel presentation associated with a 10p15.3p14 deletion.

Implications:

  • This report expands the understanding of the genotype-phenotype correlation for deletions in the 10p15.3p14 region.
  • Further research may elucidate the specific genes responsible for the observed phenotype, including cleft lip/palate.

Keywords:
10p15 deletionArray-CGHCleft lip/palateDiGeorge syndrome 2

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