Zaki M S, Gillessen-Kaesbach G, Vater I, Caliebe A, Siebert R, Kamel A K, Mohamed A M, Mazen I
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Egypt.
Eur J Med Genet. 2012 Jan;55(1):43-8. doi: 10.1016/j.ejmg.2011.09.003. Epub 2011 Oct 19.
We describe a 5 2/12 years old male patient with a de novo deletion 1q43q44 of approximately 10.4 Mb in size. The boy presented with the classic features of chromosome 1q43q44 deletion syndrome including growth and psychomotor retardation, microcephaly, distinct facial features and various midline defects as agenesis of corpus callosum, cardiac and urogenital anomalies. Fronto-parietal simplified gyral pattern was an additional neuroimaging finding. The urogenital anomalies in our patient were remarkable in form of bladder exstrophy and severe hypogenitalism with a marked hypoplastic scrotum, small sized retractile testis and absent phallus. To the best of our knowledge, bladder exstrophy and absence phallus have not been previously reported in terminal deletion 1q43q44 syndrome. This report provides further evidence of phenotype-genotype correlation and expands the phenotypic spectrum of midline defects described with this syndrome.
我们描述了一名5又2/12岁的男性患者，其发生了大小约为10.4 Mb的新发1q43q44缺失。该男孩表现出1q43q44染色体缺失综合征的典型特征，包括生长发育和精神运动发育迟缓、小头畸形、独特的面部特征以及各种中线缺陷，如胼胝体发育不全、心脏和泌尿生殖系统异常。额顶叶脑回模式简化是另一项神经影像学表现。我们患者的泌尿生殖系统异常表现为膀胱外翻和严重生殖器发育不全，阴囊明显发育不良、睾丸小且可回缩、阴茎缺如。据我们所知，膀胱外翻和阴茎缺如在1q43q44末端缺失综合征中此前尚未见报道。本报告为表型-基因型相关性提供了进一步证据，并扩展了该综合征所描述的中线缺陷的表型谱。
