Literature DB >> 2195980

Interstitial deletion of the short arm of chromosome 12. Report of a new patient and review of the literature.

J P Fryns1, A Kleczkowska, H Van den Berghe.   

Abstract

In this report we describe a female neonate with 12p interstitial deletion (karyotype: 46,XX,del(12)(pter----p13.1::p11.2----cen----qter). In addition to severe psychomotor retardation, facial dysmorphism and Turner like stigmata, she presented marked hypoplasia of the external genitalia and right heart hypoplasia. Study of LDH activity showed a marked decrease of LDHB activity contrasting with an elevated LDHA.

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Year:  1990        PMID： 2195980

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


  4 in total

1.  Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Authors:  Allen N Lamb; Jill A Rosenfeld; Nicholas J Neill; Michael E Talkowski; Ian Blumenthal; Santhosh Girirajan; Debra Keelean-Fuller; Zheng Fan; Jill Pouncey; Cathy Stevens; Loren Mackay-Loder; Deborah Terespolsky; Patricia I Bader; Kenneth Rosenbaum; Stephanie E Vallee; John B Moeschler; Roger Ladda; Susan Sell; Judith Martin; Shawnia Ryan; Marilyn C Jones; Rocio Moran; Amy Shealy; Suneeta Madan-Khetarpal; Juliann McConnell; Urvashi Surti; Andrée Delahaye; Bénédicte Heron-Longe; Eva Pipiras; Brigitte Benzacken; Sandrine Passemard; Alain Verloes; Bertrand Isidor; Cedric Le Caignec; Gwen M Glew; Kent E Opheim; Maria Descartes; Evan E Eichler; Cynthia C Morton; James F Gusella; Roger A Schultz; Blake C Ballif; Lisa G Shaffer
Journal:  Hum Mutat       Date:  2012-04       Impact factor: 4.878

2.  Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism.

Authors:  Anne Hoppe; Jan Heinemeyer; Eva Klopocki; Luitgard M Graul-Neumann; Birgit Spors; Petra Bittigau; Angela M Kaindl
Journal:  Meta Gene       Date:  2014-01-11

3.  12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments.

Authors:  Marcio Leyser; Bruno Leonardo Dias; Ana Luiza Coelho; Marcio Vasconcelos; Osvaldo J M Nascimento
Journal:  Mol Cytogenet       Date:  2016-10-04       Impact factor: 2.009

4.  Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature.

Authors:  Navin Mishra; Elizabeth Kouzmitcheva; Angela Orsino; Berge A Minassian
Journal:  Child Neurol Open       Date:  2016-04-04
  4 in total

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