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A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations.
Eur J Med Genet. 2007 May-Jun; 50(3):224-32.EJ

Abstract

Partial trisomy 12q and monosomy 12p lead to multiple malformation syndromes. Only four cases were previously reported with the association of these two aneusomies resulting from a familial pericentric inversion of chromosome 12. We report on the clinical, cytogenetic and molecular findings in a boy with an unbalanced karyotype which resulted from a familial pericentric inversion of chromosome 12. The patient was evaluated at birth and followed up until 14 years of age. He showed severe mental retardation, seizures, and dysmorphic features related both to a trisomy 12q and a monosomy 12p. Chromosome breakpoint BAC-FISH mapping revealed that the rec(12) chromosome had a terminal deletion of a 6.7Mb region extending from 12pter to 12p13.31 and a duplicated region of 19.8Mb extending from 12qter to 12q24.13. The findings from the case reported here emphasize the occurrence of some consistent clinical features and illustrate the deficiencies associated with the recombinants from the inversion inv(12)(p13.31q24.13)mat.

Authors+Show Affiliations

Instituto de Genética Médica, Hospital Italiano, Montevideo, Uruguay. rquadr@dedicado.net.uyNo 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

17329177

Citation

Vaglio, Alicia, et al. "A Fourteen Years Follow-up of a Case of Partial Trisomy 12q and Monosomy 12p Recombinants of a Familial Pericentric Inversion of Chromosome 12: Clinical, Cytogenetic and Molecular Observations." European Journal of Medical Genetics, vol. 50, no. 3, 2007, pp. 224-32.
Vaglio A, Milunsky A, Huang XL, et al. A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations. Eur J Med Genet. 2007;50(3):224-32.
Vaglio, A., Milunsky, A., Huang, X. L., Quadrelli, A., Mechoso, B., & Quadrelli, R. (2007). A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations. European Journal of Medical Genetics, 50(3), 224-32.
Vaglio A, et al. A Fourteen Years Follow-up of a Case of Partial Trisomy 12q and Monosomy 12p Recombinants of a Familial Pericentric Inversion of Chromosome 12: Clinical, Cytogenetic and Molecular Observations. Eur J Med Genet. 2007 May-Jun;50(3):224-32. PubMed PMID: 17329177.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations. AU - Vaglio,Alicia, AU - Milunsky,Aubrey, AU - Huang,Xin-Li, AU - Quadrelli,Andrea, AU - Mechoso,Búrix, AU - Quadrelli,Roberto, Y1 - 2007/01/21/ PY - 2006/11/03/received PY - 2007/01/04/accepted PY - 2007/3/3/pubmed PY - 2007/7/21/medline PY - 2007/3/3/entrez SP - 224 EP - 32 JF - European journal of medical genetics JO - Eur J Med Genet VL - 50 IS - 3 N2 - Partial trisomy 12q and monosomy 12p lead to multiple malformation syndromes. Only four cases were previously reported with the association of these two aneusomies resulting from a familial pericentric inversion of chromosome 12. We report on the clinical, cytogenetic and molecular findings in a boy with an unbalanced karyotype which resulted from a familial pericentric inversion of chromosome 12. The patient was evaluated at birth and followed up until 14 years of age. He showed severe mental retardation, seizures, and dysmorphic features related both to a trisomy 12q and a monosomy 12p. Chromosome breakpoint BAC-FISH mapping revealed that the rec(12) chromosome had a terminal deletion of a 6.7Mb region extending from 12pter to 12p13.31 and a duplicated region of 19.8Mb extending from 12qter to 12q24.13. The findings from the case reported here emphasize the occurrence of some consistent clinical features and illustrate the deficiencies associated with the recombinants from the inversion inv(12)(p13.31q24.13)mat. SN - 1769-7212 UR - https://www.unboundmedicine.com/medline/citation/17329177/A_fourteen_years_follow_up_of_a_case_of_partial_trisomy_12q_and_monosomy_12p_recombinants_of_a_familial_pericentric_inversion_of_chromosome_12:_clinical_cytogenetic_and_molecular_observations_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(07)00009-2 DB - PRIME DP - Unbound Medicine ER -