PMID- 15966044
OWN - NLM
STAT- MEDLINE
DCOM- 20051007
LR  - 20061115
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 25
IP  - 6
DP  - 2005 Jun
TI  - 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.
PG  - 492-6
AB  - 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.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan, Republic of China. cpc_mmh@yahoo.com
FAU - Chern, Schu-Rern
AU  - Chern SR
FAU - Wang, Tzu-Hao
AU  - Wang TH
FAU - Hsueh, Ding-Wei
AU  - Hsueh DW
FAU - Lee, Chen-Chi
AU  - Lee CC
FAU - Town, Dai-Dyi
AU  - Town DD
FAU - Wang, Wayseen
AU  - Wang W
FAU - Ko, Tsang-Ming
AU  - Ko TM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 10/*genetics
MH  - Chromosomes, Human, Pair 18/*genetics
MH  - Cytogenetic Analysis
MH  - Female
MH  - Genitalia/*abnormalities
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Lymphangioma, Cystic/*genetics
MH  - Monosomy/*diagnosis
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Trisomy/*diagnosis
EDAT- 2005/06/21 09:00
MHDA- 2005/10/08 09:00
CRDT- 2005/06/21 09:00
PHST- 2005/06/21 09:00 [pubmed]
PHST- 2005/10/08 09:00 [medline]
PHST- 2005/06/21 09:00 [entrez]
AID - 10.1002/pd.1179 [doi]
PST - ppublish
SO  - Prenat Diagn. 2005 Jun;25(6):492-6. doi: 10.1002/pd.1179.