Turner Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Turner Syndrome, including details on symptoms, causes, chromosomes, prognosis.

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review.

Chen CP, Lin SP, Tsai FJ, Wang TH, Chern SR, Wang W

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; College of Chinese Medicine, China Medical University, Taichung, Taiwan.

OBJECTIVE: To describe the molecular and cytogenetic characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male. DESIGN: Descriptive case study and literature review. SETTING: Tertiary medical center. PATIENT(S): A 17-year-old 45,X mentally retarded male with no stigmata of Turner syndrome. INTERVENTION(S): Molecular and cytogenetic investigations, physical examination, and hormonal assays. MAIN OUTCOME MEASURE(S): Cytogenetic analysis, fluorescence in situ hybridization (FISH), array comparative genomic hybridization (CGH), and polymorphic DNA marker analysis. RESULT(S): The FISH showed a Y/18p translocation. Array CGH revealed a loss of distal chromosome 18p material and a loss of part of Yq material corresponding to deletions of chromosomal segments of 18pter-->18p11.2 and Yq11.221-->Yqter. Polymorphic DNA markers analysis showed that the X chromosome was of maternal origin and the deletion of 18p was of paternal origin. CONCLUSION(S): This study confirms the usefulness of array CGH in the detection of subtle chromosomal rearrangements resulting in an unbalanced Y;autosome translocation.

Published 28 February 2008 in Fertil Steril.
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