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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.
Prenat Diagn. 2005 Jun; 25(6):492-6.PD

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.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. cpc_mmh@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15966044

Citation

Chen, Chih-Ping, et al. "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." Prenatal Diagnosis, vol. 25, no. 6, 2005, pp. 492-6.
Chen CP, Chern SR, Wang TH, et al. 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. Prenat Diagn. 2005;25(6):492-6.
Chen, C. P., Chern, S. R., Wang, T. H., Hsueh, D. W., Lee, C. C., Town, D. D., Wang, W., & Ko, T. M. (2005). 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. Prenatal Diagnosis, 25(6), 492-6.
Chen CP, et al. 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. Prenat Diagn. 2005;25(6):492-6. PubMed PMID: 15966044.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Chen,Chih-Ping, AU - Chern,Schu-Rern, AU - Wang,Tzu-Hao, AU - Hsueh,Ding-Wei, AU - Lee,Chen-Chi, AU - Town,Dai-Dyi, AU - Wang,Wayseen, AU - Ko,Tsang-Ming, PY - 2005/6/21/pubmed PY - 2005/10/8/medline PY - 2005/6/21/entrez SP - 492 EP - 6 JF - Prenatal diagnosis JO - Prenat. Diagn. VL - 25 IS - 6 N2 - 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. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/15966044/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_ L2 - https://doi.org/10.1002/pd.1179 DB - PRIME DP - Unbound Medicine ER -