Literature DB >> 1081371

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

R Tenconi, C Baccichetti, F Anglani, P A Pellergrino, J C Kaplan, C Junien.   

Abstract

Chromosome analysis of a 15-day old boy with multiple malformations revealed a partial deletion 12(p11;p13).

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Year:  1975        PMID： 1081371

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


  8 in total

1.  Small structural changes of chromosome 8. Two cases with evidence for deletion.

Authors:  C Beighle; L E Karp; J W Hanson; J G Hall; H Hoehn
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

2.  Partial monosomy 12p13.1----13.3.

Authors:  D R Romain; J Goldsmith; L M Columbano-Green; C J Chapman; R H Smythe; R G Parfitt
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

3.  PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance.

Authors:  C Junien; H Rubinson-Skala; J C Dreyfus; N Ravise; J Boué; A Boué; J C Kaplan
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

4.  Translocations involving chromosome 12. I. A report of a 12,21 translocation in a woman with recurrent abortions, and a study of the breakpoints and modes of ascertainment of translocations involving chromosome 12.

Authors:  J H Ford; R H Rofe; R P Pavy
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  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

6.  Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.

Authors:  M A Ferguson-Smith; D A Aitken; C Turleau; J de Grouchy
Journal:  Hum Genet       Date:  1976-09-10       Impact factor: 4.132

7.  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

8.  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
  8 in total

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