PDF(Pubmed)
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.
摘要：
1p36缺失综合征是由1号染色体短臂末端染色体带的杂合缺失引起的。1p36是男性中最常见的末端缺失（5000个新生儿中有1个），以独特的畸形为特征，延迟生长，精神运动性迟钝,智力赤字,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巧。这项工作的目的是评估摩洛哥首例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。目前没有有效的药物治疗这种疾病。
