Literature DB >> 11164196

Trisomy 5p. A case report and review.

G V Velagaleti1, D L Morgan, V S Tonk.   

Abstract

Trisomy 5p is a clinically discernable syndrome with characteristic clinical features. To date more than 40 patients with trisomy for various regions of short arm of chromosome 5 have been reported. Here we report a case with complete trisomy 5p and present a review of the literature.

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Year:  2000        PMID： 11164196     DOI： 10.1016/s0003-3995(00)01030-3

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  6 in total

1.  Familial whole-arm translocations (1;19), (9;13), and (12;21): a review of 101 constitutional exchanges.

Authors:  Alejandra Vázquez-Cárdenas; Ana I Vásquez-Velásquez; Patricio Barros-Núñez; Johana Mantilla-Capacho; Mariano Rocchi; Horacio Rivera
Journal:  J Appl Genet       Date:  2007       Impact factor: 3.240

2.  Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.

Authors:  Acácia Fernandes Lacerda de Carvalho; Fernanda Teixeira da Silva Bellucco; Leslie Domenici Kulikowski; Maria Betânia Pereira Toralles; Maria Isabel Melaragno
Journal:  Hum Genet       Date:  2008-09-07       Impact factor: 4.132

3.  CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.

Authors:  Louise Montagne; Mehdi Derhourhi; Amélie Piton; Bénédicte Toussaint; Emmanuelle Durand; Emmanuel Vaillant; Dorothée Thuillier; Stefan Gaget; Franck De Graeve; Iandry Rabearivelo; Amélie Lansiaux; Bruno Lenne; Sylvie Sukno; Rachel Desailloud; Miriam Cnop; Ramona Nicolescu; Lior Cohen; Jean-François Zagury; Mélanie Amouyal; Jacques Weill; Jean Muller; Olivier Sand; Bruno Delobel; Philippe Froguel; Amélie Bonnefond
Journal:  Mol Metab       Date:  2018-05-16       Impact factor: 7.422

4.  Trisomy 5p with bilateral congenital diaphragmatic hernia: a case report.

Authors:  Noriyuki Nakamura; Takafumi Ushida; Yoshinori Moriyama; Kenji Imai; Tomoko Nakano-Kobayashi; Satoko Osuka; Maki Goto; Hiroaki Kajiyama; Hideyuki Asada; Masahiro Hayakawa; Tomomi Kotani
Journal:  J Med Case Rep       Date:  2021-03-10

Review 5.  Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.

Authors:  Virginia Miraldi Utz; Diana S Brightman; Monica A Sandoval; Robert B Hufnagel; Howard M Saal
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-09-05       Impact factor: 3.359

6.  A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.

Authors:  Danijela Krgovic; Ana Blatnik; Ante Burmas; Andreja Zagorac; Nadja Kokalj Vokac
Journal:  BMC Med Genet       Date:  2014-02-11       Impact factor: 2.103
  6 in total

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