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Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18.
Ann Genet. 2004 Jul-Sep; 47(3):297-303.AG

Abstract

We report a recurrent partial monosomy of 18p10-->11.2 and proximal partial trisomy of 18q10-->21.3 caused by a maternal pericentric inversion of chromosome 18, involving breakpoints p11.2 and q21q21.3 Based on cytogenetics and FISH analysis, we speculate that the recurrent chromosome abnormality in the proband and in the fetus was the result of a translocation, possibly in a germ cell or germ cell precursor, between the maternal normal 18 and her inverted 18, resulting in maternal germinal mosaicism, i.e. 46,XX,inv(18)/46,XX,t[18;inv(18)][q10;q10]. The unbalanced karyotype of the proband and the fetus is 46,XY,+18,der[18;inv(18)][q10;q10]. To the best of our knowledge, there are no reports of this combination of proximal 18p monosomy and proximal 18q trisomy. The other interesting observation was association of Hirschsprung's disease in the proband.

Authors+Show Affiliations

Diagnostics Division, Center for DNA Fingerprinting & Diagnostics, 7-18, ECIL Road, Nacharam, Hyderabad 500076, India.No 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

15337476

Citation

Prabhakara, K, et al. "Recurrent Proximal 18p Monosomy and 18q Trisomy in a Family With a Maternal Pericentric Inversion of Chromosome 18." Annales De Genetique, vol. 47, no. 3, 2004, pp. 297-303.
Prabhakara K, Wyandt HE, Huang XL, et al. Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18. Ann Genet. 2004;47(3):297-303.
Prabhakara, K., Wyandt, H. E., Huang, X. L., Prasad, K. S., & Ramadevi, A. R. (2004). Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18. Annales De Genetique, 47(3), 297-303.
Prabhakara K, et al. Recurrent Proximal 18p Monosomy and 18q Trisomy in a Family With a Maternal Pericentric Inversion of Chromosome 18. Ann Genet. 2004 Jul-Sep;47(3):297-303. PubMed PMID: 15337476.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18. AU - Prabhakara,K, AU - Wyandt,Herman E, AU - Huang,Xin L, AU - Prasad,K Suma, AU - Ramadevi,A Radha, PY - 2003/09/25/received PY - 2004/03/25/accepted PY - 2004/9/1/pubmed PY - 2004/10/30/medline PY - 2004/9/1/entrez SP - 297 EP - 303 JF - Annales de genetique JO - Ann Genet VL - 47 IS - 3 N2 - We report a recurrent partial monosomy of 18p10-->11.2 and proximal partial trisomy of 18q10-->21.3 caused by a maternal pericentric inversion of chromosome 18, involving breakpoints p11.2 and q21q21.3 Based on cytogenetics and FISH analysis, we speculate that the recurrent chromosome abnormality in the proband and in the fetus was the result of a translocation, possibly in a germ cell or germ cell precursor, between the maternal normal 18 and her inverted 18, resulting in maternal germinal mosaicism, i.e. 46,XX,inv(18)/46,XX,t[18;inv(18)][q10;q10]. The unbalanced karyotype of the proband and the fetus is 46,XY,+18,der[18;inv(18)][q10;q10]. To the best of our knowledge, there are no reports of this combination of proximal 18p monosomy and proximal 18q trisomy. The other interesting observation was association of Hirschsprung's disease in the proband. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/15337476/Recurrent_proximal_18p_monosomy_and_18q_trisomy_in_a_family_with_a_maternal_pericentric_inversion_of_chromosome_18_ DB - PRIME DP - Unbound Medicine ER -