Literature DB >> 6641768

Partial trisomy 3p in two siblings: clinical and pathological findings.

N Van Regemorter, E Vamos, Y Gillerot, V Viteux, F Hayez, A Pardou, J Flament-Durand.   

Abstract

Two siblings affected with partial trisomy 3p resulting from a maternal balanced translocation 46,XXt(3;10) (p21;q26) are reported. The clinical features of this syndrome are reviewed. The necropsy findings of the two siblings are discussed.

Entities:  

Mesh:

Year:  1983        PMID: 6641768     DOI: 10.1007/BF00445671

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  15 in total

1.  Familial translocation (3p 15p) with partial trisomy for the upper arm of chromosome 3 in two sibs.

Authors:  B Say; N Barber; M Bobrow; K Jones; J G Coldwell
Journal:  J Pediatr       Date:  1976-03       Impact factor: 4.406

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

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

3.  [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

4.  A new translocation syndrome (3/B).

Authors:  S Walzer; B Favara; P M Ming; P S Gerald
Journal:  N Engl J Med       Date:  1966-08-11       Impact factor: 91.245

5.  A family showing transmission of a translocation t(3porq-;Cq+).

Authors:  J McHugh; T Wright; P Cooke
Journal:  J Med Genet       Date:  1971-12       Impact factor: 6.318

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.  Descriptive neuropathology of chromosomal disorders in man.

Authors:  F Gullotta; H Rehder; A Gropp
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

8.  Trisomy for the distal end of the short arm of chromosome 3: a syndrome.

Authors:  J J Yunis
Journal:  Am J Dis Child       Date:  1978-01

9.  Partial 3p trisomy and different rearrangements involving chromosome 3 in the proposita's family.

Authors:  J M de Pina Neto; I Ferrari
Journal:  Am J Med Genet       Date:  1980

10.  Duplication 3p syndrome: report of a new case and review of the literature.

Authors:  J Charrow; M M Cohen; D Meeker
Journal:  Am J Med Genet       Date:  1981
View more
  3 in total

1.  Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.

Authors:  O Zuffardi; L Gargantini; S Lambiase; F Lo Curto; P Maraschio; C E Ford
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

2.  A de novo 3p;8p unbalanced translocation resulting in partial dup(3p) and partial del(8p).

Authors:  P R Scarbrough; A J Carroll; W H Finley; D R Bridges
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

3.  A complex three way translocation resulting in two sibs with partial trisomy 3p23----3pter.

Authors:  R Voss; E Gross-Kieselstein; H Hurvitz; J Dagan; E Kerem; J Zlotogora
Journal:  J Med Genet       Date:  1984-12       Impact factor: 6.318

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.