Genetics Department, Clinical Research Center, University Hospital Center Mohammed VI, Marrakesh, Morocco.
School of Medicine and Pharmacy of Marrakech, Cadi Ayyad University, Marrakesh, Morocco.
Pan Afr Med J. 2020 Dec 16;37:349. doi: 10.11604/pamj.2020.37.349.26166. eCollection 2020.
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.
1p36 缺失综合征是由于染色体 1 短臂末端带的杂合性缺失所致。1p36 单体性是男性中最常见的末端缺失（每 5000 个新生儿中就有 1 例），其特征为明显的畸形、生长迟缓、精神运动发育迟缓、智力缺陷、癫痫和心脏缺陷。荧光原位杂交（FISH）和比较基因组杂交（CGH-array）是目前两种最好的诊断技术。本工作的目的是报道首例摩洛哥 1p36 缺失病例，并说明遗传学家在该综合征的诊断和管理中的作用。目前，这种疾病没有有效的治疗方法。
