PMID: 641949Apr 1, 1978Paper

Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes

Journal of Medical Genetics
B ZabelG Conrad


We report 2 patients from different families with malformation-retardation syndromes caused by a partial trisomy of the long and of the short arm of chromosome 5, respectively (case 1: 46,XX,der(3),t(3;5)(p27;p13)mat; case 2: 46,XY,der(22),t(5;22)(q33;q13)pat). Several members of these families were balanced translocation carriers. Our cases are compared with those cited in the literature. The possibility of delineating a 5p- and a 5q-partial-trisomy syndrome is discussed.


Jan 12, 1972·Nature: New Biology·H C Wang, S Fedoroff


Nov 1, 2007·European Journal of Human Genetics : EJHG·Barbara R MigeonPatricia A Jacobs
Aug 1, 1993·Acta Paediatrica Japonica; Overseas Edition·K YasutomoS Endo
Aug 1, 1993·Acta Paediatrica Japonica; Overseas Edition·T NakayamaS Kamoshita
Aug 1, 1986·The British Journal of Ophthalmology·S HaraK Mizuno
Mar 1, 1987·Journal of Medical Genetics·D KumarC E Blank
Sep 9, 2008·Human Genetics·Acácia Fernandes Lacerda de CarvalhoMaria Isabel Melaragno
Jan 14, 2004·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·J M Carbonell PérezM L Martínez Frías
Jun 18, 2009·American Journal of Medical Genetics. Part a·Ariana KariminejadMohammad Hasan Kariminejad
Mar 14, 2002·American Journal of Medical Genetics·Brynn LevyNataline B Kardon
Feb 5, 1998·American Journal of Medical Genetics·S Y LiT L Yang-Feng
May 8, 1999·American Journal of Medical Genetics·D MowatA Smith
Jul 19, 2002·American Journal of Medical Genetics·Loredana D'Amato SizonenkoIngrid Winship
Feb 11, 1997·American Journal of Medical Genetics·I Lorda-SánchezM L Martínez-Frías
Mar 1, 1996·American Journal of Medical Genetics·J C BarberN R Dennis
Oct 24, 2007·American Journal of Medical Genetics. Part a·Jia-Chi WangMargot I Van Allen
Feb 1, 1994·American Journal of Medical Genetics·M McDonaldJ Innis
Nov 1, 1982·American Journal of Medical Genetics·A CarnevaleV Del Castillo
May 1, 1982·American Journal of Medical Genetics·G S KhodrK S Kagan-Hallet
Aug 1, 1991·American Journal of Medical Genetics·L G LeichtmanA R Brothman
Jul 8, 2005·American Journal of Medical Genetics. Part a·M CerveraA González-del Angel
Oct 21, 1999·American Journal of Medical Genetics·J R AvansinoM L Levin
Feb 1, 1987·Clinical Genetics·N L ChiaB H Johnson
Aug 1, 1985·Clinical Genetics·G I LazjukT I Ostrovskaya

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