PMID: 7334509Dec 1, 1981Paper

Partial trisomy 12q: report of a case and review

Journal of Medical Genetics
S H RobertsL Pavone

Abstract

A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1), is described. The cytogenetic and clinical abnormalities of the proband are compared with those of four previously reported cases of partial trisomy 12q, two of which also appear to have pure trisomy of segment 12q24.1 leads to 12 qter.

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Citations

Feb 1, 1985·Journal of Medical Genetics·E H TajaraA C Gusson
Jan 1, 1993·Journal of Medical Genetics·J W DixonI E Teshima
Feb 16, 2012·European Journal of Human Genetics : EJHG·Chirag PatelHelen Cox
Sep 5, 2003·American Journal of Medical Genetics. Part a·Laura RodríguezMaría Luisa Martínez-Frías
Oct 14, 2005·American Journal of Medical Genetics. Part a·Liming Bao, Elizabeth K Schorry
Jul 5, 2013·American Journal of Medical Genetics. Part a·M BertoliA M Nardone
Jul 16, 2013·European Journal of Medical Genetics·Arjan BoumanTjitske Kleefstra
Feb 3, 2004·American Journal of Medical Genetics. Part a·Clotilde Lagier-TourenneE Jeandidier
Jun 25, 2004·American Journal of Medical Genetics. Part a·Julie Won IrelandNoralane M Lindor
Sep 24, 2004·Physiological Reviews·Michael C Brown, Christopher E Turner
Jul 1, 1984·American Journal of Medical Genetics·W B DobynsF Greenberg
Jul 31, 1995·American Journal of Medical Genetics·C P KoiffmannA Wajntal
Aug 1, 1986·American Journal of Medical Genetics·M M McCorquodaleP Kolacki
Jun 21, 2005·Prenatal Diagnosis·Hsiu-Huei PengYung-Kuei Soong
Sep 1, 1984·Jinrui idengaku zasshi. The Japanese journal of human genetics·A IeshimaY Kuroki
Mar 1, 1987·Jinrui idengaku zasshi. The Japanese journal of human genetics·M MasunoY Kuroki
Jan 18, 2006·American Journal of Medical Genetics. Part a·Martine Doco-FenzyMichel Goossens
Sep 11, 1992·Clinical Genetics·A JeziorowskaH M Wisniewski
Aug 1, 1985·Clinical Genetics·C TengströmJ Leisti

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