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11p15.4 Microdeletion Associates with Hemihypertrophy

Surasak Puvabanditsin1, Mehrin Sadiq1, Marianne Jacob1

  • 1Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.

Case Reports in Genetics
|December 5, 2018
PubMed

Insights

A rare genetic condition involving a deletion on chromosome 11p15.4 was identified in a preterm infant. This case presents unique clinical features, contributing to the understanding of this rare genetic disorder.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Intrauterine growth retardation (IUGR) and dysmorphic features can indicate underlying genetic abnormalities.
  • Chromosome 11p15.4 deletions are rare and associated with specific developmental syndromes.
  • Early identification of genetic conditions is crucial for timely intervention and management.

Observation:

  • A preterm female infant presented with intrauterine growth retardation, dysmorphic facies, a missing rib, and anomalies of the hands and feet.
  • The infant also exhibited hemihypertrophy, indicating asymmetric growth.
  • These clinical signs suggested a potential genetic etiology requiring further investigation.

Findings:

  • Whole genome SNP microarray analysis revealed a 77 Kb interstitial deletion on the short arm of chromosome 11 (11p15.4).
  • This specific deletion defines the genetic basis for the observed clinical phenotype.
  • The findings confirm a novel presentation of this rare chromosomal abnormality.

Implications:

  • This case expands the known clinical spectrum associated with 11p15.4 deletions.
  • Understanding such rare genetic conditions improves diagnostic accuracy and genetic counseling.
  • Further research into the genes within the deleted region may elucidate specific developmental pathways affected.

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