Long-term follow-up of females with unbalanced X;Y translocations-reproductive and nonreproductive consequences

Molecular Cytogenetics
Whitney A DobekLawrence C Layman

Abstract

Females with Xp;Yq translocations manifest short stature and normal fertility, but rarely have follow-up. The study purpose was to define the phenotype of a family with t(X;Y)(p22.3;q11.2), determine long-term reproductive function, and compare to all reported female cases. Comprehensive clinical and molecular analyses were performed on the female proband, who had regular menses, normal endocrine function, and three pregnancies spanning seven years--a normal liveborn male and two with unbalanced translocations (liveborn female and stillborn male). The translocation truncated KAL1 and deleted 44 genes on der(X). Our report constitutes the longest follow-up of an X;Y translocation female. She had no evidence of Kallmann syndrome, gonadoblastoma, or cardiovascular disease. Detailed analysis of 50 published female cases indicated a uniform lack of follow-up and significant morbidity-intellectual disability (10%), facial dysmorphism (28%), eye abnormalities (14%), and skeletal defects (28%). Our findings indicate normal ovarian function to date in a woman with an t(X;Y)(p22.3;q11.2). However, additional published studies in the literature suggest careful follow-up is necessary and contradict the generalization that females with Xp;Y...Continue Reading

References

Apr 15, 1977·Human Genetics·H van den BergheJ P Fryns
Oct 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·P H YenL J Shapiro
Sep 1, 1988·Human Genetics·K AgematsuT Akabane
Jul 1, 1987·American Journal of Medical Genetics·K JohnstonD R Cox
Oct 29, 1973·JAMA : the Journal of the American Medical Association·G KhudrJ Strauss
Jan 1, 1980·Cytogenetics and Cell Genetics·R A Pfeiffer
Jan 1, 1980·Human Genetics·H O AkessonJ Wahlström
May 20, 1998·Nature Genetics·V BelinV Cormier-Daire
Jul 8, 1998·Human Genetics·R S JamesP A Jacobs
Oct 30, 1999·Human Genetics·G CalabreseG Palka
Aug 28, 2001·Annales de génétique·S G FrintsK Devriendt
Apr 2, 2003·Nature Genetics·Stéphane JamainUNKNOWN Paris Autism Research International Sibpair Study
Feb 28, 2006·Fertility and Sterility·Balasubramanian BhagavathLawrence C Layman
Jun 26, 2010·American Journal of Medical Genetics. Part a·N BukvicM Margaglione
Oct 2, 2012·Fertility and Sterility·Quincy Zhong, Lawrence C Layman
Oct 9, 2012·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Jan 15, 2013·Fertility and Sterility·Scott M Nelson

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Methods Mentioned

BETA
PCR
blood drawn
chips

Software Mentioned

Genotype Console

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