Literature DB >> 2246774

A de novo interstitial deletion of 15(q21.2q22.1) in a moderately retarded adult male.

F Martin1, J Platt, E J Tawn, J Burn.   

Abstract

An adult male is described with a de novo deletion 15q21.2-q22.1. He shares some minor dysmorphic features with similar cases but the degree of mental retardation is markedly less severe.

Entities:  

Mesh：

Year:  1990        PMID： 2246774      PMCID： PMC1017244          DOI： 10.1136/jmg.27.10.637

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


  4 in total

1.  Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.

Authors:  M Y Yip; M Selikowitz; N Don; A Kovacic; S Purvis-Smith; P R Lam-Po-Tang
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318

2.  Interstitial deletion of chromosome 15: two cases.

Authors:  L D Formiga; L Poenaru; F Couronne; E Flori; J L Eibel; M M Deminatti; J B Savary; J L Lai; S Gilgenkrantz; M Pierson
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

3.  Interstitial deletion of the long arm of chromosome 15.

Authors:  J P Fryns; A de Muelenaere; H van den Berghe
Journal:  Ann Genet       Date:  1982

4.  Is Angelman syndrome an alternate result of del(15)(q11q13)?

Authors:  R E Magenis; M G Brown; D A Lacy; S Budden; S LaFranchi
Journal:  Am J Med Genet       Date:  1987-12
  4 in total
  3 in total

1.  A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

Authors:  L Morlé; M Bozon; J C Zech; N Alloisio; A Raas-Rothschild; C Philippe; J C Lambert; J Godet; H Plauchu; P Edery
Journal:  Am J Hum Genet       Date:  2000-10-13       Impact factor: 11.025

2.  Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays.

Authors:  Marilyn M Li; Manjunath A Nimmakayalu; Danielle Mercer; Hans C Andersson; Beverly S Emanuel
Journal:  Am J Med Genet A       Date:  2008-02-01       Impact factor: 2.802

3.  Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).

Authors:  Seema R Lalani; Trilochan Sahoo; Merideth E Sanders; Sarika U Peters; Bassem A Bejjani
Journal:  BMC Med Genet       Date:  2006-02-10       Impact factor: 2.103
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.