Primary ovarian failure in a mentally retarded woman with a de novo unbalanced X;autosome translocation.
OBJECTIVE
To describe the clinical findings of a patient with a de novo unbalanced X;autosome translocation.


METHODS
Descriptive case study.


METHODS
Mackay Memorial Hospital, National Yang-Ming University, China Medical University, China Medical University Hospital, and Chung Shan Medical University.


METHODS
A 33-year-old woman with primary ovarian failure, moderate mental retardation, and mild phenotype of facial dysmorphism.


METHODS
None.


METHODS
Ultrasound, cytogenetic analysis, and laboratory studies of hormones.


RESULTS
Laboratory studies revealed the following values: FSH level 72.48 mIU/mL (normal women: <40 mIU/mL), LH level 32.87 mIU/mL (normal women: <21 mIU/mL), and E(2) level <20 pg/mL (normal women up to 375 pg/mL), confirming primary ovarian failure. The PRL level was normal. Spectral karyotyping and G-banding cytogenetic analysis revealed a derivative X chromosome containing additional chromosomal material derived from the distal long arm of chromosome 5. The derived chromosome X had break points at Xq27.3 and 5q32, resulting in monosomy Xq (Xq27.3-->qter) and partial trisomy 5q (5q32-->qter). The patient's karyotype was 46,X,der(X)t(X;5)(q27.3;q32). The parental karyotypes were normal.


CONCLUSIONS
This is the first report of partial monosomy Xq (Xq27.3-->qter) and partial trisomy 5q (5q32-->qter). The present case provides evidence for the occurrence of primary ovarian failure and mental retardation in females with unbalanced X;autosome translocations.
Chen
Chih-Ping
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
Lin
Chyi-Chyang
CC
Li
Yueh-Chun
YC
Hsieh
Lie-Jiau
LJ
Lee
Chen-Chi
CC
Wang
Wayseen
W
D000328:Adult; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D038901:X-Linked Intellectual Disability / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*