Literature DB >> 2441059

Partial monosomy 12p13.1----13.3.

D R Romain, J Goldsmith, L M Columbano-Green, C J Chapman, R H Smythe, R G Parfitt.   

Abstract

We describe a 27 month old female child with partial monosomy for the short arm of chromosome 12: 46,XX,del(12)(p13.1----p13.3). She differs from the eight cases described by others, in that she is less severely affected. Her main clinical features are developmental delay, protruding tongue, strabismus, slightly unusual facies, slight micrognathia, and speech delay.

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Mesh：

Year:  1987        PMID： 2441059      PMCID： PMC1050154          DOI： 10.1136/jmg.24.7.434

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

1.  Partial deletion of the short arm of chromosome 12(p11; p13). Report of a case.

Authors:  R Tenconi; C Baccichetti; F Anglani; P A Pellergrino; J C Kaplan; C Junien
Journal:  Ann Genet       Date:  1975-06

2.  Localization of the human lactate dehydrogenase B gene on the short arm of chromosome 12.

Authors:  K Mayeda; L Weiss; R Lindahl; M Dully
Journal:  Am J Hum Genet       Date:  1974-01       Impact factor: 11.025

3.  Phenotypic variation in the del(12p) syndrome.

Authors:  J D Kivlin; R M Fineman; M S Williams
Journal:  Am J Med Genet       Date:  1985-12

4.  Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB.

Authors:  E Magenis; M G Brown; J Chamberlin; T Donlon; D Hepburn; N Lamvik; E Lovrien; M Yoshitomi
Journal:  Am J Med Genet       Date:  1981
  4 in total
  5 in total

1.  12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.

Authors:  Julien Thevenon; Patrick Callier; Joris Andrieux; Bruno Delobel; Albert David; Sylvie Sukno; Delphine Minot; Laure Mosca Anne; Nathalie Marle; Damien Sanlaville; Marlène Bonnet; Alice Masurel-Paulet; Fabienne Levy; Lorraine Gaunt; Sandra Farrell; Cédric Le Caignec; Annick Toutain; Virginie Carmignac; Francine Mugneret; Jill Clayton-Smith; Christel Thauvin-Robinet; Laurence Faivre
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

2.  An 18-year follow-up report on an infant with a duplication of 9q34.

Authors:  Erin L Youngs; Timothy McCord; Jessica A Hellings; Nancy B Spinner; Adele Schneider; Merlin G Butler
Journal:  Am J Med Genet A       Date:  2010-01       Impact factor: 2.802

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

Review 5.  Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33-p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review.

Authors:  Ji Yoon Han; Joonhong Park
Journal:  Genes (Basel)       Date:  2021-06-29       Impact factor: 4.096
  5 in total

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