Monaghan K G, Van Dyke D L, Wiktor A, Feldman G L
Department of Medical Genetics, Henry Ford Hospital, Detroit, Michigan 48202, USA.
Am J Med Genet. 1997 Dec 12;73(2):180-3. doi: 10.1002/(sici)1096-8628(1997)73:2<180::aid-ajmg13>3.0.co;2-q.
The most commonly reported manifestations of 16q deletions are severe growth and developmental disorders and anomalies of the craniofacial, visceral, and musculoskeletal systems. We reviewed the findings of patients reported with 16q- syndrome and compared them to our patient, a 4 1/2-year-old boy with a deletion of 16q23.1. Findings include psychomotor retardation, hypotonia, high forehead, hypertelorism, upslanting palpebral fissures, low-set abnormally modeled ears, and talipes equinovarus. Anomalies present in our patient not reported in others with 16q- syndrome include bilateral cataracts, iris coloboma, and autistic-like behavior. It is of note that a locus for autosomal dominant congenital cataract, known as Marner cataract, was mapped previously to 16q22. Because our patient has bilateral cataracts and a unilateral iris coloboma, it seems likely that a gene involved in ocular development is located within 16q23.1. Our patient's deletion may also include the gene involved in Marner cataract and may further assist in the isolation of this gene.
16号染色体长臂缺失最常报告的表现是严重的生长发育障碍以及颅面、内脏和肌肉骨骼系统的异常。我们回顾了报告患有16q-综合征患者的研究结果，并将其与我们的患者进行比较，我们的患者是一名4岁半的男孩，缺失16q23.1。研究结果包括精神运动发育迟缓、肌张力减退、高额、眼距增宽、睑裂向上倾斜、低位形态异常的耳朵以及马蹄内翻足。我们的患者中存在的异常情况在其他16q-综合征患者中未报告，包括双侧白内障、虹膜缺损和自闭症样行为。值得注意的是，一种常染色体显性先天性白内障的基因座，即马纳白内障，先前已定位到16q22。由于我们的患者患有双侧白内障和单侧虹膜缺损，参与眼部发育的基因似乎可能位于16q23.1内。我们患者的缺失也可能包括参与马纳白内障的基因，并可能进一步有助于该基因的分离。
