A Prevalent Y;15 Translocation in the Ethiopian Beta Israel Community in Israel

作者：Chen Shtoyerman R^*; Ben Yehoshua S Josef**erg; Nissani R; Rosensaft J; Appelman Z

来源：Cytogenetic and Genome Research, 2012, 136(3): 171-174.

DOI：10.1159/000336201

• Beta Israel
• Ethiopian Jews
• Fluorescence in situ hybridization
• Prenatal diagnosis
• Y
• 15 translocation

We describe 7 cases of abnormal karyotypes involving chromosomes Y and 15 in Ethiopian Beta Israel patients: 46,XX,der(15)t(Y;15)(q12;p12) and 46,XY,der(15)t(Y;15)(q12;p12). Six cases were incidentally found in amniocentesis performed for various indications; the indication for karyotyping in 1 case was recurrent abortions. To the best of our knowledge, this is the first report of this translocation in a specific ethnic group. We conclude that the derivative chromosome 15 with chromosome Y is probably a normal variant in Ethiopian Beta Israel occurring at an estimated frequency of 4/74 (5.4%). The prenatal diagnosis of this translocation in this population probably does not require further parental testing.

• 出版日期2012