Literature DB >> 7702088

Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.

T Nagai1, G Nishimura, R Kato, T Hasegawa, H Ohashi, Y Fukushima.   

Abstract

We describe a 5-year-old Japanese boy who has some radiographic findings characteristic of asphyxiating thoracic dystrophy (ATD)-chondroectodermal dysplasia with a de novo chromosome abnormality. He also has mild mental retardation, short stature, hypoplastic hair and skin, oligodontia, small thoracic cage, hypoplastic pelvis and cone-shaped epiphyses of hands. On cytogenetic studies he was found to have a de novo del(12)(p11.21p12.2). These results suggest that the locus of the gene associated with ATD-chondroectodermal dysplasia may be situated at 12p11.21p12.2.

Entities:  

Mesh：

Year:  1995        PMID： 7702088     DOI： 10.1002/ajmg.1320550106

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


  8 in total

1.  Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family.

Authors:  S Bähring; T Nagai; H R Toka; I Nitz; O Toka; A Aydin; A Mühl; T F Wienker; H Schuster; F C Luft
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

2.  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

3.  Fetal thoracic measurements in prenatal diagnosis of Jeune syndrome.

Authors:  Bibhuti B Das; Anasuya Nagaraj; Ayodeji Fayemi; Benamanahalli K Rajegowda; Philip F Giampietro
Journal:  Indian J Pediatr       Date:  2002-01       Impact factor: 1.967

Review 4.  Transcriptional dysregulation of neocortical circuit assembly in ASD.

Authors:  Kenneth Y Kwan
Journal:  Int Rev Neurobiol       Date:  2013       Impact factor: 3.230

Review 5.  Brachydactyly E: isolated or as a feature of a syndrome.

Authors:  Arrate Pereda; Intza Garin; Maria Garcia-Barcina; Blanca Gener; Elena Beristain; Ane Miren Ibañez; Guiomar Perez de Nanclares
Journal:  Orphanet J Rare Dis       Date:  2013-09-12       Impact factor: 4.123

6.  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

7.  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.  A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum.

Authors:  Jia Huang; Hong-Yan Liu; Rong-Rong Wang; Hai Xiao; Dong Wu; Tao Li; Ying-Hai Jiang; Xue Zhang
Journal:  Chin Med J (Engl)       Date:  2019-07-20       Impact factor: 2.628
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.