Talisetti Anita, Forrester Shawnia R, Gregory David, Johnson Lisa, Schneider Michael C, Kimonis Virginia E
Division of Genetics and Metabolism, Southern Illinois University School of Medicine, Springfield, IL, USA.
Clin Dysmorphol. 2003 Jul;12(3):175-7. doi: 10.1097/01.mcd.0000072161.33788.56.
We describe the phenotype of a 5 year old girl with features resembling Temtamy syndrome, including agenesis of the corpus callosum, ventriculomegaly, frontal bossing, peaked eyebrows, ptosis, malformed and low set ears, a depressed nasal bridge, a long philtrum, and iris and chorioretinal colobomas. Features unique to this child include profound mental retardation, bilateral sensorineural hearing loss, agenesis of the corpus callosum, patent ductus arteriosus, ventricular septal defect, unilateral renal agenesis, neurogenic bladder and hydronephrosis. High resolution chromosome analysis demonstrated a de novo, balanced translocation [46,XX,t(2;9)(p24;q32)]; and her case has some overlapping phenotypic features with cases of monosomy for 2p. This is the first documented case of Temtamy syndrome with a specific chromosomal anomaly, and will assist with the elucidation of the syndrome's underlying genetic defect.
我们描述了一名5岁女孩的表型，其特征类似于坦塔米综合征，包括胼胝体发育不全、脑室扩大、额部隆起、眉弓高耸、上睑下垂、耳朵畸形且位置较低、鼻梁凹陷、人中长以及虹膜和脉络膜视网膜缺损。该患儿独有的特征包括严重智力发育迟缓、双侧感音神经性听力损失、胼胝体发育不全、动脉导管未闭、室间隔缺损、单侧肾发育不全、神经源性膀胱和肾积水。高分辨率染色体分析显示存在一种新发的平衡易位[46,XX,t(2;9)(p24;q32)]；并且她的病例与2p单体病例有一些重叠的表型特征。这是首例记录有特定染色体异常的坦塔米综合征病例，将有助于阐明该综合征潜在的遗传缺陷。
