On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome

G. Martini, G. Carillo, F. Catizone, A. Notarangelo, R. Mingarelli, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39-year-old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non-disjunction.

Original languageEnglish
Pages (from-to)763-766
Number of pages4
JournalPrenatal Diagnosis
Volume13
Issue number8
Publication statusPublished - 1993

Keywords

  • 49,XXXXX
  • Molecular analysis
  • Non-disjunction
  • Ovary atrophy
  • Pentasomy X
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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