Literature DB >> 2246023

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

D S Murthy1, A S Teebi, T S Sundareshan, S A al-Awadi.   

Abstract

A child with fragile secondary constriction 2q11 associated with unusual clinical features and psychomotor retardation is described. The pathogenetic significance of this fragile site still remains unclear, and heterogeneity of clinical manifestations is not well understood.

Entities:  

Mesh：

Year:  1990        PMID： 2246023     DOI： 10.1007/bf02722098

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  9 in total

1.  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

2.  Inherited constriction fragility of chromosome 2.

Authors:  M A Ferguson-Smith
Journal:  Ann Genet       Date:  1973-03

3.  Preferential breakage of sensitive regions of human chromosomes.

Authors:  B R Reeves; S D Lawler
Journal:  Humangenetik       Date:  1970

4.  Structural aberration in chromosome no.2.

Authors:  J Nielsen
Journal:  Humangenetik       Date:  1973-09-20

5.  [Selective endoreduplication of the long arm of the 2 chromosome in a woman and her daughter].

Authors:  J Lejeune; B Dutrillaux; J Lafourcade; R Berger; D Abonyi; M O Rethoré
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1968-01-03

6.  Non-condensation of one segment of a chromosome No. 2 in a male with an otherwise normal karyotype (and severe hypospadias).

Authors:  E M Bühler; U Luchsinger; U K Bühler; K Méhes; G R Stalder
Journal:  Humangenetik       Date:  1970

7.  [Paracentromeric rupture of the long arm of a 2 chromosome in a 9-month-old girl with cystathioninuria, psychomotor retardation and cataract].

Authors:  E Ferrante; L Bruni; S Grimaldi
Journal:  Riv Clin Pediatr       Date:  1968 Sep-Oct

8.  A fragile secondary constriction on chromosome 2 in five patients with different clinical features.

Authors:  G Annerén; K H Gustavson
Journal:  Hereditas       Date:  1981       Impact factor: 3.271

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

Authors:  A J Williams; R T Howell
Journal:  J Ment Defic Res       Date:  1977-09
  9 in total
  2 in total

Review 1.  Transcription Pause and Escape in Neurodevelopmental Disorders.

Authors:  Kristel N Eigenhuis; Hedda B Somsen; Debbie L C van den Berg
Journal:  Front Neurosci       Date:  2022-05-09       Impact factor: 5.152

2.  FRA2A is a CGG repeat expansion associated with silencing of AFF3.

Authors:  Sofie Metsu; Liesbeth Rooms; Jacqueline Rainger; Martin S Taylor; Hemant Bengani; David I Wilson; Chandra Sekhar Reddy Chilamakuri; Harris Morrison; Geert Vandeweyer; Edwin Reyniers; Evelyn Douglas; Geoffrey Thompson; Eric Haan; Jozef Gecz; David R Fitzpatrick; R Frank Kooy
Journal:  PLoS Genet       Date:  2014-04-24       Impact factor: 5.917
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.