Cox Helen, Lucassen Anneke, Rio Marlene, Browne Caroline, Renforth Glenn, Craven Lyndsey, Salmon Tony, Wilson David I
Division of Human Genetics Department of Paediatric Cardiology, Southampton General Hospital Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton Wessex Regional Genetics Laboratory, Salisbury Healthcare NHS Trust, Salisbury District Hospital, Salisbury, UK INSERM U393, Hopital Necker-Enfants Malades, Paris, France.
Clin Dysmorphol. 2009 Apr;18(2):98-102. doi: 10.1097/MCD.0b013e3283202a1f.
The phenotypes associated with subtle deletions of the subtelomeric regions of many chromosomes have been reported. This is a detailed description of the clinical characteristics of two children with subtelomeric deletions of the long arm of chromosome 11 that were not apparent on the initial karyotype. We compare and contrast these with the clinical characteristics of a patient with a cytogenetically visible terminal 11q deletion, who shares similar craniofacial characteristics. All three suffered from moderate learning disability. Subtelomeric 11q deletions can be associated with mild-to-moderate learning difficulties and specific facial features, namely hypertelorism, down-slanting palpebral fissures and ptosis.
与许多染色体亚端粒区域微小缺失相关的表型已有报道。本文详细描述了两名11号染色体长臂亚端粒缺失的儿童的临床特征，这些缺失在最初的核型分析中并不明显。我们将他们与一名细胞遗传学上可见的11q末端缺失患者的临床特征进行比较和对比，该患者具有相似的颅面特征。三人都患有中度学习障碍。11q亚端粒缺失可能与轻度至中度学习困难以及特定的面部特征有关，即眼距过宽、睑裂向下倾斜和上睑下垂。
