Fertility in a female with mosaic trisomy 8

Katherine A Rauen, Mahin Golabi, Philip D. Cotter

Research output: Contribution to journalArticle

6 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)206-208
Number of pages3
JournalFertility and Sterility
Volume79
Issue number1
DOIs
StatePublished - Jan 1 2003
Externally publishedYes

Keywords

  • Chromosome 8
  • Fertility
  • Mosaicism
  • Trisomy

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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