Fertility in a female with mosaic trisomy 8.
OBJECTIVE
To describe the first term pregnancy in a patient with the characteristic features of trisomy 8 mosaicism.


METHODS
Case report.


METHODS
University department.


METHODS
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].


METHODS
Cytogenetic analysis and genetics evaluation of the proband and her child.


METHODS
The first successful pregnancy in a phenotypically abnormal trisomy 8 patient.


RESULTS
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.


CONCLUSIONS
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.
Rauen
Katherine A
KA
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Golabi
Mahin
M
Cotter
Philip D
PD
D000328:Adult; D000649:Amniocentesis; D006063:Chorionic Gonadotropin / Q000097:blood; D002898:Chromosomes, Human, Pair 8; D003025:Clubfoot / Q000000981:diagnostic imaging; D019465:Craniofacial Abnormalities / Q000235:genetics; D004964:Estriol / Q000097:blood; D005260:Female; D006312:Hearing Loss, Bilateral / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D007752:Obstetric Labor, Premature / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications; D011256:Pregnancy Outcome; D014314:Trisomy; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins / Q000032:analysis
D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D004964:Estriol