Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3→qter) and partial trisomy 18q (18q23→qter) in a fetus associated with cystic hygroma and ambiguous genitalia

Chih Ping Chen*, Schu Rern Chern, Tzu Hao Wang, Ding Wei Hsueh, Chen Chi Lee, Dai Dyi Town, Wayseen Wang, Tsang Ming Ko

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

19 Scopus citations

Abstract

Objectives: To present the prenatal diagnosis and molecular cytogenetic analysis of a fetus with nuchal cystic hygroma and ambiguous genitalia. Case and Methods: Amniocentesis was performed at 16 weeks' gestation because of the abnormal fetal sonographic finding of a large septated nuchal cystic hygroma. Genetic amniocentesis revealed a terminal deletion in the long arm of chromosome 10. The paternal karyotype was subsequently found to be 46,XY,t(10;18)(q25. 3;q23). The maternal karyotype was normal. The pregnancy was terminated. A hydropic fetus was delivered with a septated nuchal cystic hygroma and ambiguous genitalia. Fluorescence in situ hybridization (FISH), microarray-based comparative genomic hybridization (CGH), and polymorphic DNA markers were used to investigate the involved chromosomal segments. Results: FISH study showed absence of the 10q telomeric probe and presence of the 18q telomeric probe in the derivative chromosome 10. Microarray-based CGH analysis showed loss of distal 10q and gain of distal 18q. Polymorphic DNA marker analysis determined the breakpoints. The fetal karyotype was 46,XY,der(10)t(10;18)(q25.3;q23)pat. The chromosome aberration resulted in partial monosomy 10q (10q25.3→qter) and partial trisomy 18q (18q23→qter). Conclusions: The present case provides evidence that partial monosomy 10q (10q25.3→qter) with partial trisomy 18q (18q23→qter) can be a genetic cause of fetal cystic hygroma and ambiguous genitalia. Cytogenetic analysis for prenatally detected structural abnormalities may detect unexpected inherited chromosome aberrations.

Original languageEnglish
Pages (from-to)492-496
Number of pages5
JournalPrenatal Diagnosis
Volume25
Issue number6
DOIs
StatePublished - 06 2005
Externally publishedYes

Keywords

  • Ambiguous genitalia
  • Chromosome 10q deletion
  • Chromosome 18q duplication
  • Cystic hygroma
  • Prenatal diagnosis

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