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Fertility in a female with mosaic trisomy 8.

Abstract：

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.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Rauen KA,Golabi M,Cotter PD

doi

10.1016/s0015-0282(02)04410-2

keywords:

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

206-8

issue

1

eissn

0015-0282

issn

1556-5653

pii

S0015028202044102

journal_volume

79

pub_type

杂志文章

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