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


METHODS
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).


RESULTS
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%).


CONCLUSIONS
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;Yq translocations are usually normal except for short stature.
Department of Obstetrics & Gynecology, Medical College of Georgia, Georgia Regents University, Augusta, GA USA.
Whitney A
WA
Dobek
Department of Obstetrics & Gynecology, Medical College of Georgia, Georgia Regents University, Augusta, GA USA ; Section of Reproductive Endocrinology, Infertility, & Genetics, Medical College of Georgia, Georgia Regents University, Augusta, GA USA.
Hyung-Goo
HG
Kim
Department of Obstetrics & Gynecology, Medical College of Georgia, Georgia Regents University, Augusta, GA USA.
Cedric A
CA
Walls
Department of Obstetrics & Gynecology, Medical College of Georgia, Georgia Regents University, Augusta, GA USA ; Section of Reproductive Endocrinology, Infertility, & Genetics, Medical College of Georgia, Georgia Regents University, Augusta, GA USA.
Lynn P
LP
Chorich
Department of Obstetrics & Gynecology, Medical College of Georgia, Georgia Regents University, Augusta, GA USA ; Section of Reproductive Endocrinology, Infertility, & Genetics, Medical College of Georgia, Georgia Regents University, Augusta, GA USA.
Sandra Pt
SP
Tho
Department of Surgery and Department of Pathology, Anatomy & Cell Biology, Thomas Jefferson University, Philadelphia, PA USA.
Zi-Xuan
ZX
Wang
Department of Obstetrics & Gynecology, Medical College of Georgia, Georgia Regents University, Augusta, GA USA ; Section of Reproductive Endocrinology, Infertility, & Genetics, Medical College of Georgia, Georgia Regents University, Augusta, GA USA.
Paul G
PG
McDonough
Department of Obstetrics & Gynecology, Medical College of Georgia, Georgia Regents University, Augusta, GA USA ; Section of Reproductive Endocrinology, Infertility, & Genetics, Medical College of Georgia, Georgia Regents University, Augusta, GA USA ; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Georgia Regents University, 1120 15th Street, Augusta, GA USA.
Lawrence C
LC
Layman
Chromosome translocation; KAL1 gene; Kallmann syndrome; SHOX gene; Short stature; X;Y translocation; Xp22 deletion