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Fertility in a female with mosaic trisomy 8
Katherine A Rauen1, Mahin Golabi, Philip D Cotter
1Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Objective:
To describe the first term pregnancy in a patient with the characteristic features of trisomy 8 mosaicism.
Design:
Case report.
Setting:
University department.
Patient(S):
The 23-year-old proband had a history of cleft palate, mixed bilateral hearing loss, short stature, and developmental delay. She had dysmorphic craniofacial features, mild musculoskeletal abnormalities, and abnormal skin pigmentation. Her karyotype was mos47,XX,+8[17]/46,XX[83].
Intervention(S):
Cytogenetic analysis and genetics evaluation of the proband and her child.
Main Outcome Measure(S):
The first successful pregnancy in a phenotypically abnormal trisomy 8 patient.
Result(S):
The pregnancy was largely uncomplicated except for an abnormal triple screen, with subsequent normal amniocentesis, and a fetal ultrasound revealing a clubfoot anomaly. Cytogenetic analysis of the child showed a 46,XX karyotype.
Conclusion(S):
Our review indicates that reproduction in females with mosaic trisomy 8 is possible, albeit uncommon. Until additional cases are reported and any specific risks identified, prenatal diagnosis of any pregnancies in mosaic trisomy 8 patients would seem prudent. In addition, this and previous cases illustrate the need to effectively counsel families of mosaic trisomy 8 children about the possibility of reproduction.