Kumar Manoj, Kumar Rakesh, Tanwar Mukesh, Ghose Supriyo, Kaur Jasbir, Dada Rima
Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110029, India.
Case Rep Med. 2011;2011:708450. doi: 10.1155/2011/708450. Epub 2011 Jun 23.
Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD). The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical records were reviewed. 50 GTG-banded metaphases were analysed to detect any structural or numerical chromosomal abnormality. Downward slanting of palpebral fissures, hypoplasia of zygomatic arch complex, and hypoplasia of mandible were present in all. Cytogenetic findings show interstitial deletion in chromosomes 5(q32-q33) and 3(q23-q25). We report four members of three generations of a family having TCS in a unique way that the deletion has been found in 3q and 5q which has not been reported. Mosaicism of deletion on 5q was detected in all affected members whereas 3q deletion was found only in one member (II.2). This finding may represent a more severe manifestation of the TCS. Thus the evaluation and counselling of the TCS patients should be undertaken with caution.
特雷彻·柯林斯综合征（TCS）是一种罕见的常染色体显性疾病，其特征为颅面畸形。它是下颌面骨发育不全（MFD）最常见的类型。本研究的目的是对一个TCS家系进行细胞遗传学分析。对体格检查和所有可用的医疗记录进行了回顾。分析了50个经GTG染色的中期分裂相，以检测任何结构或数目染色体异常。所有患者均存在睑裂向下倾斜、颧弓复合体发育不全和下颌骨发育不全。细胞遗传学结果显示5号染色体（q32-q33）和3号染色体（q23-q25）存在间质性缺失。我们报告了一个三代家系中的四名TCS患者，其独特之处在于在3号染色体长臂和5号染色体长臂发现了缺失，此前未见报道。在所有受影响成员中均检测到5号染色体长臂缺失的嵌合体，而3号染色体长臂缺失仅在一名成员（II.2）中发现。这一发现可能代表了TCS更严重的表现形式。因此，对TCS患者的评估和咨询应谨慎进行。
