Al-Achkar W, Wafa A, Al-Ablog A, Moassass F, Liehr T
Department of Molecular Biology and Biotechnology, Division of Human Genetics, Atomic Energy Commission of Syria, Damascus, Syria.
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
Balkan J Med Genet. 2013 Dec;16(2):73-6. doi: 10.2478/bjmg-2013-0035.
Constitutional chromosomal abnormalities are an important cause of miscarriage, infertility, congenital anomalies and mental retardation in humans. Pericentric inversions of the human Y-chromosome [inv(Y)] are rather common and show an estimated incidence of 0.6-1:1,000 in males in the general population. Most of the reported cases with inv(Y) are familial. For carriers of pericentric inversions the risk of mental retardation or multiple abortions is not apparently increased and there is no relation with abnormal phenotypic features. Polymerase chain reaction (PCR) analysis to detect microdeletions along the Y-chromosome as well as cytogenetic and fluorescence in situ hybridization (FISH) analysis were done to delineate the characteristics of an inv(Y) in a Syrian family. Thus, we present a detailed molecular-cytogenetic characterization of a father and his two sons having an inv(Y)(p11. 2q11.221∼q11.222) with varying mental retardation features but otherwise normal phenotype.
染色体结构异常是人类流产、不孕、先天性畸形和智力发育迟缓的重要原因。人类Y染色体的臂间倒位[inv(Y)]相当常见，在普通人群中男性的估计发病率为0.6-1:1000。大多数报道的inv(Y)病例是家族性的。对于臂间倒位携带者，智力发育迟缓或多次流产的风险并未明显增加，且与异常表型特征无关。为了描述一个叙利亚家庭中inv(Y)的特征，进行了聚合酶链反应(PCR)分析以检测Y染色体上的微缺失，以及细胞遗传学和荧光原位杂交(FISH)分析。因此，我们详细介绍了一位父亲及其两个儿子的分子细胞遗传学特征，他们患有inv(Y)(p11. 2q11.221∼q11.222)，具有不同的智力发育迟缓特征，但其他方面表型正常。
