Literature DB >> 468231

Partial trisomy 3q.

E Yunis, L Quintero, A Casteñeda, E Ramirez, M Leibovici.   

Abstract

A new case of partial trisomy 3q is reported in a 5-year-old female with severe congenital malformations and psychomotor retardation. A review of the literature, with a total of 11 patients, allows us to conclude that the clinical picture reminiscent of the Cornelia de Lange syndrome is caused by the trisomic state.

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Year:  1979        PMID： 468231     DOI： 10.1007/bf00272831

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  10 in total

1.  A case of partial trisomy 3q.

Authors:  H Chiyo; Y Kuroki; I Matsui; N Niitsu; Y Nakogome
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

2.  A cytogenetic study of human spontaneous abortions using banding techniques.

Authors:  M R Creasy; J A Crolla; E D Alberman
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

3.  [Partial trisomy for the distal part of the short branch of chromosome 3].

Authors:  F Ballesta; L Vehi
Journal:  Ann Genet       Date:  1974-12

4.  An unusual chromosomal segregation in a family with a translocation between chromosomes 3 and 12.

Authors:  S Sachdeva; G F Smith; P Justice
Journal:  J Med Genet       Date:  1974-09       Impact factor: 6.318

5.  [Trisomy for the distal part of the short arm of the number 3 chromosome in 3 siblings. First example of chromosomal insertion: INS(7;3)(q 31;p 21 p 26)].

Authors:  M O Rethoré; J Lejeune; S Carpentier; M Prieur; B Dutrillaux; P Seringe; A Rossier; J C Job
Journal:  Ann Genet       Date:  1972-09

6.  46, XY, t(3;22) (p2;q13) resulting in partial trisomy for the short arm of chromosome 3.

Authors:  R B Surana; M E Braudo; P E Conen; R H Slade
Journal:  Clin Genet       Date:  1977-03       Impact factor: 4.438

7.  Familial transmission of a 3q;22p translocation, with partial trisomy of chromosome 3 in the propositus.

Authors:  R Sod; E Giorgiutti; T Matayoshi; G de Kohan; E Munoz
Journal:  J Genet Hum       Date:  1978-06

8.  Partial trisomy for the long arm of chromosome 3 [3(q21 to qter)+] in a newborn with minor physical stigmata.

Authors:  J P Fryns; M van Eygen; N Logghe; H Van den Berghe
Journal:  Hum Genet       Date:  1978-02-16       Impact factor: 4.132

9.  Familial de Lange syndrome with chromosome abnormalities.

Authors:  A Falek; R Schmidt; G A Jervis
Journal:  Pediatrics       Date:  1966-01       Impact factor: 7.124

10.  Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).

Authors:  P W Allderdice; N Browne; D P Murphy
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025
  10 in total
  1 in total

1.  Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.

Authors:  I D Krantz; E Tonkin; M Smith; M Devoto; A Bottani; C Simpson; M Hofreiter; V Abraham; L Jukofsky; B P Conti; T Strachan; L Jackson
Journal:  Am J Med Genet       Date:  2001-06-15
  1 in total

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