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A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.
Eur J Med Genet. 2006 Sep-Oct; 49(5):402-13.EJ

Abstract

We report on a 3-year-old girl with psychomotor retardation, cardiopathy, strabismus, umbilical hernia, and facial dysmorphism in whom a de novo unbalanced submicroscopic translocation (10p;18q) was found by MLPA (Multiplex Ligation dependent Probe Amplification) and FISH analyses. Additional FISH studies with locus specific RP11 BAC probes and analyses with microsatellites revealed that the translocation resulted in a deletion estimated between 6 and 9 Mb on the maternal chromosome 18 and a subtelomeric 10p duplication of approximately 6.9 Mb. The proband's karyotype is 46,XX.ish der(18) t(10;18)(18pter-->18q23:10p15 --> 10pter). A subterminal duplication of 10p, as well as a subterminal deletion of 18q have been rarely reported so far. The clinical phenotype of this patient is reviewed and discussed.

Authors+Show Affiliations

Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium. winnie.courtens@ua.ac.beNo affiliation info availableNo 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
Review

Language

eng

PubMed ID

16488200

Citation

Courtens, Winnie, et al. "A De Novo Subterminal Trisomy 10p and Monosomy 18q in a Girl With MCA/MR: Case Report and Review." European Journal of Medical Genetics, vol. 49, no. 5, 2006, pp. 402-13.
Courtens W, Wuyts W, Scheers S, et al. A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review. Eur J Med Genet. 2006;49(5):402-13.
Courtens, W., Wuyts, W., Scheers, S., Van Luijk, R., Reyniers, E., Rooms, L., Ceulemans, B., Kooy, F., & Wauters, J. (2006). A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review. European Journal of Medical Genetics, 49(5), 402-13.
Courtens W, et al. A De Novo Subterminal Trisomy 10p and Monosomy 18q in a Girl With MCA/MR: Case Report and Review. Eur J Med Genet. 2006 Sep-Oct;49(5):402-13. PubMed PMID: 16488200.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review. AU - Courtens,Winnie, AU - Wuyts,Wim, AU - Scheers,Stefaan, AU - Van Luijk,Rob, AU - Reyniers,Edwin, AU - Rooms,Liesbeth, AU - Ceulemans,Berten, AU - Kooy,Frank, AU - Wauters,Jan, Y1 - 2006/01/30/ PY - 2005/07/20/received PY - 2006/01/01/accepted PY - 2006/2/21/pubmed PY - 2006/12/9/medline PY - 2006/2/21/entrez SP - 402 EP - 13 JF - European journal of medical genetics JO - Eur J Med Genet VL - 49 IS - 5 N2 - We report on a 3-year-old girl with psychomotor retardation, cardiopathy, strabismus, umbilical hernia, and facial dysmorphism in whom a de novo unbalanced submicroscopic translocation (10p;18q) was found by MLPA (Multiplex Ligation dependent Probe Amplification) and FISH analyses. Additional FISH studies with locus specific RP11 BAC probes and analyses with microsatellites revealed that the translocation resulted in a deletion estimated between 6 and 9 Mb on the maternal chromosome 18 and a subtelomeric 10p duplication of approximately 6.9 Mb. The proband's karyotype is 46,XX.ish der(18) t(10;18)(18pter-->18q23:10p15 --> 10pter). A subterminal duplication of 10p, as well as a subterminal deletion of 18q have been rarely reported so far. The clinical phenotype of this patient is reviewed and discussed. SN - 1769-7212 UR - https://www.unboundmedicine.com/medline/citation/16488200/A_de_novo_subterminal_trisomy_10p_and_monosomy_18q_in_a_girl_with_MCA/MR:_case_report_and_review_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(06)00002-4 DB - PRIME DP - Unbound Medicine ER -