Literature DB >> 926168

A fragile secondary constriction on chromosome 2 in a severely mentally retarded patient.

A J Williams, R T Howell.   

Abstract

A case is presented of an eighteen-year-old girl suffering from severe mental retardation associated with a fragile secondary constriction on the long arm of chromosome 2. The question of the relationship between the phenotypic and chromosomal abnormalities is discussed. We acknowledge the co-operation of Dr M. E. Elsarag and Dr K. M. Laurence in allowing this investigation to be made.

Entities:  

Mesh：

Year:  1977        PMID： 926168     DOI： 10.1111/j.1365-2788.1977.tb00042.x

Source DB:  PubMed          Journal:  J Ment Defic Res        ISSN： 0022-264X


  10 in total

1.  Brief report: autism of the Asperger type associated with an autosomal fragile site.

Authors:  J R Saliba; M Griffiths
Journal:  J Autism Dev Disord       Date:  1990-12

2.  Studies on three rare fragile sites. 2q13, 12q13, and 17p12 segregating in one family.

Authors:  D R Romain; L M Columbano-Green; R H Smythe; R G Parfitt; O B Gebbie; C J Chapman
Journal:  Hum Genet       Date:  1986-06       Impact factor: 4.132

3.  The constitutional fragility of chromosome 12 in a case of 46,XX,var(12)(gh',RHG,CAG,CBG).

Authors:  E Donti; G Venti; V Bocchini; G Rosi; R Armellini; N Trabalza
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

4.  Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

Review 5.  Familial fragile secondary constriction on chromosome 2 (2q11) with unusual features and psychomotor retardation.

Authors:  D S Murthy; A S Teebi; T S Sundareshan; S A al-Awadi
Journal:  Indian J Pediatr       Date:  1990 Mar-Apr       Impact factor: 1.967

6.  Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-2q14.1 and paralogous regions on other human chromosomes.

Authors:  Yuxin Fan; Elena Linardopoulou; Cynthia Friedman; Eleanor Williams; Barbara J Trask
Journal:  Genome Res       Date:  2002-11       Impact factor: 9.043

7.  Search for chromosomal variations among gas-exposed persons in Bhopal.

Authors:  H K Goswami; M Chandorkar; K Bhattacharya; G Vaidyanath; D Parmar; S Sengupta; S L Patidar; L K Sengupta; R Goswami; P N Sharma
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

8.  Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

9.  Origin of symmetrical triradial chromosomes in human cells.

Authors:  E M Kuhn; E Therman
Journal:  Chromosoma       Date:  1982       Impact factor: 4.316

10.  The inheritance of fragile sites: apparent absence of fra(2)(q13) in the parents of three unrelated probands.

Authors:  L Keskiaho; S Knuutila; H Pihko; A Nuutila; U Kaski; M Koivikko; A de la Chapelle
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318
  10 in total

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