Open Access1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization (FISH): a case report
Author(s) -
Kenza Dafir,
Fatima Zahra Bouzid,
Maria Mansouri,
Nisrine Aboussair
Publication year - 2020
Publication title -
the pan african medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.287
H-Index - 30
ISSN - 1937-8688
DOI - 10.11604/pamj.2020.37.349.26166
Subject(s) - fluorescence in situ hybridization , comparative genomic hybridization , medicine , psychomotor retardation , monosomy , in situ hybridization , fish <actinopterygii> , genetics , chromosome , pediatrics , karyotype , pathology , biology , gene , gene expression , alternative medicine , fishery
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.