Literature DB >> 1481806

Interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3))

F R Mattia1, T D Wardinsky, D J Tuttle, A Grix, K A Smith, P Walling.   

Abstract

A male patient with a de novo proximal interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3) is described with multiple anomalies and developmental delay. This patient's clinical manifestations are compared to previously reported patients with deletions of chromosome 1p.

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Year:  1992        PMID： 1481806     DOI： 10.1002/ajmg.1320440503

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).

Authors:  André B P van Kuilenburg; Judith Meijer; Adri N P M Mul; Raoul C M Hennekam; Jan M N Hoovers; Christine E M de Die-Smulders; Peter Weber; Andrea Capone Mori; Jörgen Bierau; Brian Fowler; Klaus Macke; Jörn Oliver Sass; Rutger Meinsma; Julia B Hennermann; Peter Miny; Lida Zoetekouw; Raymon Vijzelaar; Joost Nicolai; Bauke Ylstra; M Estela Rubio-Gozalbo
Journal:  Hum Genet       Date:  2009-03-19       Impact factor: 4.132

2.  Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis.

Authors:  Sabine Leybrand; Eva Rossier; Gotthold Barbi; David N Cooper; Hildegard Kehrer-Sawatzki
Journal:  Genomic Med       Date:  2007-07-11

3.  Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch.

Authors:  Masitah Ibrahim; Matthew Hunter; Lucy Gugasyan; Yuen Chan; Atul Malhotra; Arvind Sehgal; Kenneth Tan
Journal:  Clin Case Rep       Date:  2017-01-23

4.  1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

Authors:  Natália Duarte Linhares; Maíra Cristina Menezes Freire; Raony Guimarães Corrêa do Carmo Lisboa Cardenas; Heloisa Barbosa Pena; Katherine Lachlan; Bruno Dallapiccola; Carlos Bacino; Bruno Delobel; Paul James; Ann-Charlotte Thuresson; Göran Annerén; Sérgio D J Pena
Journal:  Genet Mol Biol       Date:  2016-08-04       Impact factor: 1.771
  4 in total

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