1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization

Pan Afr Med J. 2020 Dec 16:37:349. doi: 10.11604/pamj.2020.37.349.26166. eCollection 2020.

Abstract

The 1p36 deletion syndrome results from a heterozygous deletion of the terminal chromosomal band of the short arm of chromosome 1. Monosomy 1p36 is the most common terminal deletion observed in men (1 in 5000 newborns), characterized by distinctive dysmorphia, delayed growth, psychomotor retardation, intellectual deficit, epilepsy and heart defects. Fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH-array) are currently the two best diagnostic techniques. The objective of this work is to take stock of the first Moroccan case of 1p36 deletion and to illustrate the role of the geneticist in the diagnosis and management of this syndrome. There is currently no effective medical treatment for this disease.

Keywords: 1p36 deletion; case report; delayed development; facial dysmorphia; fluorescence in situ hybridization.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / physiopathology
  • Chromosomes, Human, Pair 1
  • Comparative Genomic Hybridization
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Morocco

Supplementary concepts

  • Chromosome 1p36 Deletion Syndrome