Prenatal diagnosis of monosomy 10q25 associated with single umbilical artery and sex reversal: Report of a case

Yi Pei Chung, Hsiao Lin Hwa, Li Hui Tseng, Ming Kwang Shyu, Chien Nan Lee, Jin Chung Shih, Fon Jou Hsieh

Research output: Contribution to journalArticlepeer-review

Abstract

The association of rare chromosomal rearrangements involving a specific 10q breakpoint with a single umbilical artery (SUA) and sex reversal has never been reported. This report describes the case of a fetus with prenatal ultrasound features of severe intrauterine growth retardation (IUGR), congenital heart disease, and SUA. Fetal blood study revealed de novo deletion of 10q25 and a 46,XY karyotype, while ultrasound demonstrated female genitalia. Based on these findings, sex reversal was diagnosed. Polymerase chain reaction (PCR) amplification revealed the presence of the sex-determining region of the Y (SRY) gene. The pregnancy was terminated at 36 weeks and the newborn weighed 1908 g with marked facial dysmorphism and abnormal genitalia. Because the parents refused autopsy for this case, histopathological examination of gonads was not performed. Breakpoint of the long arm of chromosome 10 may be responsible for sex reversal in the present case and it could thus confirm the concept of autosomal sex reversal proposed in previous reports.

Original languageEnglish (US)
Pages (from-to)73-77
Number of pages5
JournalPrenatal Diagnosis
Volume18
Issue number1
DOIs
StatePublished - Jan 1998
Externally publishedYes

Keywords

  • Sex reversal
  • Single umbilical artery
  • SRY gene
  • Terminal 10q deletions

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

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