Literature DB >> 631852

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

J P Fryns, M van Eygen, N Logghe, H Van den Berghe.   

Abstract

In this report a description is given of a female newborn with minor physical stigmata presenting a partial trisomy for the second region of chromosome 3 (3q32 leads to 3qter). The additional 3q2 material is located at the distal end of the long arms of chromosome 2 as the result of a de novo 3/2 germinal translocation.

Mesh：

Year:  1978        PMID： 631852     DOI： 10.1007/bf00272194

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


  9 in total

1.  CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA.

Authors:  G SCHACHENMANN; W SCHMID; M FRACCARO; A MANNINI; L TIEPOLO; G P PERONA; E SARTORI
Journal:  Lancet       Date:  1965-08-07       Impact factor: 79.321

2.  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

3.  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

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

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

5.  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

6.  [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

7.  A newborn with the cat-eye syndrome.

Authors:  J P Fryns; E Eggermont; H Veresen; H Van den Berghe
Journal:  Humangenetik       Date:  1972

8.  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

9.  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
  9 in total
  4 in total

Review 1.  A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

Authors:  T Cai; D A Tagle; X Xia; P Yu; X X He; L Y Li; J H Xia
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

Review 2.  Intrachromosomal insertions: a case report and a review.

Authors:  K Madan; F H Menko
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

3.  Partial trisomy 3q.

Authors:  E Yunis; L Quintero; A Casteñeda; E Ramirez; M Leibovici
Journal:  Hum Genet       Date:  1979-05-10       Impact factor: 4.132

4.  Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype.

Authors:  Deniz Cemgil Arıkan; Ayhan Coşkun; Ilker Arıkan; Gürkan Kıran; Gülay Ceylaner
Journal:  J Turk Ger Gynecol Assoc       Date:  2010-12-01
  4 in total

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