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Prenatal diagnosis of monosomy 10q25 associated with single umbilical artery and sex reversal: report of a case.
- Source :
-
Prenatal diagnosis [Prenat Diagn] 1998 Jan; Vol. 18 (1), pp. 73-7. - Publication Year :
- 1998
-
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.
- Subjects :
- Abortion, Induced
Adult
Craniofacial Abnormalities genetics
Female
Fetal Growth Retardation diagnostic imaging
Fetal Growth Retardation genetics
Gene Deletion
Heart Defects, Congenital diagnostic imaging
Humans
Karyotyping
Male
Pregnancy
Ultrasonography, Prenatal
Umbilical Arteries diagnostic imaging
Chromosomes, Human, Pair 10
Disorders of Sex Development genetics
Monosomy
Prenatal Diagnosis
Umbilical Arteries abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 0197-3851
- Volume :
- 18
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Prenatal diagnosis
- Publication Type :
- Academic Journal
- Accession number :
- 9483644
- Full Text :
- https://doi.org/10.1002/(sici)1097-0223(199801)18:1<73::aid-pd215>3.0.co;2-8