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De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency.
Prenat Diagn. 2006 Mar; 26(3):206-13.PD

Abstract

OBJECTIVES

Increased nuchal translucency (NT) during the first trimester of pregnancy is a useful marker to detect chromosomal abnormalities. Here, we report a prenatal case with molecular cytogenetic characterisation of an abnormal derivative chromosome 9 identified through NT.

METHODS

Amniocentesis was performed because of an increased NT (4.4 mm) and showed an abnormal de novo 46,XX,add(9)(p24.3) karyotype. To characterise the origin of the small additional material on 9p, we performed a microarray comparative genomic hybridisation (microarray CGH) using a genomic DNA array providing an average of 1 Mb resolution.

RESULTS

Microarray CGH showed a deletion of distal 9p and a trisomy of distal 17q. These results were confirmed by FISH analyses. Microarray CGH provided accurate information on the breakpoint regions and the size of both distal 9p deletion and distal 17q trisomy. The fetus was therefore a carrier of a de novo derivative chromosome 9 arising from a t(9;17)(p24.3;q24.3) translocation and generating a monosomy 9p24.3-pter and a trisomy 17q24.3-qter.

CONCLUSION

This case illustrates that microarray CGH is a rapid, powerful and sensitive technology to identify small de novo unbalanced chromosomal abnormalities and can be applied in prenatal diagnosis.

Authors+Show Affiliations

Service de Génétique et Reproduction (APHP), Hôpital Antoine Béclère, Clamart, France.No 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

Language

eng

PubMed ID

16450348

Citation

Brisset, Sophie, et al. "De Novo Monosomy 9p24.3-pter and Trisomy 17q24.3-qter Characterised By Microarray Comparative Genomic Hybridisation in a Fetus With an Increased Nuchal Translucency." Prenatal Diagnosis, vol. 26, no. 3, 2006, pp. 206-13.
Brisset S, Kasakyan S, L'Herminé AC, et al. De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency. Prenat Diagn. 2006;26(3):206-13.
Brisset, S., Kasakyan, S., L'Herminé, A. C., Mairovitz, V., Gautier, E., Aubry, M. C., Benkhalifa, M., & Tachdjian, G. (2006). De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency. Prenatal Diagnosis, 26(3), 206-13.
Brisset S, et al. De Novo Monosomy 9p24.3-pter and Trisomy 17q24.3-qter Characterised By Microarray Comparative Genomic Hybridisation in a Fetus With an Increased Nuchal Translucency. Prenat Diagn. 2006;26(3):206-13. PubMed PMID: 16450348.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency. AU - Brisset,Sophie, AU - Kasakyan,Serdar, AU - L'Herminé,Aurore Coulomb, AU - Mairovitz,Valérie, AU - Gautier,Evelyne, AU - Aubry,Marie-Cécile, AU - Benkhalifa,Moncef, AU - Tachdjian,Gérard, PY - 2006/2/2/pubmed PY - 2006/8/4/medline PY - 2006/2/2/entrez SP - 206 EP - 13 JF - Prenatal diagnosis JO - Prenat Diagn VL - 26 IS - 3 N2 - OBJECTIVES: Increased nuchal translucency (NT) during the first trimester of pregnancy is a useful marker to detect chromosomal abnormalities. Here, we report a prenatal case with molecular cytogenetic characterisation of an abnormal derivative chromosome 9 identified through NT. METHODS: Amniocentesis was performed because of an increased NT (4.4 mm) and showed an abnormal de novo 46,XX,add(9)(p24.3) karyotype. To characterise the origin of the small additional material on 9p, we performed a microarray comparative genomic hybridisation (microarray CGH) using a genomic DNA array providing an average of 1 Mb resolution. RESULTS: Microarray CGH showed a deletion of distal 9p and a trisomy of distal 17q. These results were confirmed by FISH analyses. Microarray CGH provided accurate information on the breakpoint regions and the size of both distal 9p deletion and distal 17q trisomy. The fetus was therefore a carrier of a de novo derivative chromosome 9 arising from a t(9;17)(p24.3;q24.3) translocation and generating a monosomy 9p24.3-pter and a trisomy 17q24.3-qter. CONCLUSION: This case illustrates that microarray CGH is a rapid, powerful and sensitive technology to identify small de novo unbalanced chromosomal abnormalities and can be applied in prenatal diagnosis. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/16450348/De_novo_monosomy_9p24_3_pter_and_trisomy_17q24_3_qter_characterised_by_microarray_comparative_genomic_hybridisation_in_a_fetus_with_an_increased_nuchal_translucency_ L2 - https://doi.org/10.1002/pd.1379 DB - PRIME DP - Unbound Medicine ER -