Literature DB >> 730187

The problem of partial trisomy 22 reconsidered.

G M Feldman, R S Sparkes.   

Abstract

A patient with partial trisomy 22(PT22) is presented. Inheritance is presumed to be due to secondary nondisjunction in her mother, who has a balanced translocation t(11;22)(q25;q13). The problem of the phenotypic heterogeneity observed with this chromosome change is discussed.

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Year:  1978        PMID: 730187     DOI: 10.1007/bf00277580

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


  10 in total

1.  [Partial trisomy of the long arm of the chromosme 11 by malsegregation of a maternal translocation t(11;22)(q23 1;q1 11)].

Authors:  B Noel; M Levy; M O Rethoré
Journal:  Ann Genet       Date:  1976-06

2.  [Trisomy 11 q (q23.1 - qter) through maternal translocation t(11;22) (q23.1;q11.1). A new case].

Authors:  N Ayraud; A Galiana; M Llyod; M Deswarte
Journal:  Ann Genet       Date:  1976-03

3.  [2 cases of trisomy 11q(q23.2-- qter) with the same abnormality of external genitalia].

Authors:  C Laurent; M C Biemont; M Bethenod; L Cret; M David
Journal:  Ann Genet       Date:  1975-09

4.  [2 cases of trisomy 11q(q231--qter) by translocation t(11;22) (q231;q111) in 2 different families].

Authors:  A Aurias; C Turc; Y Michiels; P M Sinet; D Graveleau; J Lejeune
Journal:  Ann Genet       Date:  1975-09

5.  [Partial trisomy 11q and familial translocation 11--22 (author's transl)].

Authors:  F Giraud; J F Mattei; M G Mattei; R Bernard
Journal:  Humangenetik       Date:  1975-08-25

6.  Partial trisomy 22: a recognizable syndrome.

Authors:  P Garlinger; S A McGeary; E Magenis
Journal:  Clin Genet       Date:  1977-07       Impact factor: 4.438

7.  47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22.

Authors:  E Kessel; R A Pfeiffer
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

8.  Cat eye syndrome. Partial trisomy 22 due to translocation in the mother.

Authors:  M K Bofinger; S W Soukup
Journal:  Am J Dis Child       Date:  1977-08

9.  Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations.

Authors:  U Francke
Journal:  Am J Hum Genet       Date:  1972-03       Impact factor: 11.025

10.  The problem of trisomy 22. A case report and a discussion of the variant forms.

Authors:  H Zellweger; V Ionasescu; J Simpson; L Burmeister
Journal:  Clin Pediatr (Phila)       Date:  1976-07       Impact factor: 1.168

  10 in total
  7 in total

1.  Partial trisomy 22--an old case reexamined.

Authors:  G Kosztolányi; E M Bühler
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

2.  Partial trisomy of 11 and 22 due to familial translocation t(11;22)(q23;q11), inherited in three generations.

Authors:  H Nakai; Y Yamamoto; Y Kuroki
Journal:  Hum Genet       Date:  1979-10-02       Impact factor: 4.132

3.  Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families.

Authors:  A Schinzel; W Schmid; P Auf der Maur; H Moser; K H Degenhardt; M Geisler; A Grubisic
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  The 11q;22q translocation: a European collaborative analysis of 43 cases.

Authors:  M Fraccaro; J Lindsten; C E Ford; L Iselius
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

5.  Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.

Authors:  Melissa T Carter; Stephanie A St Pierre; Elaine H Zackai; Beverly S Emanuel; Kym M Boycott
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

6.  Partial 11q trisomy syndrome.

Authors:  H Pihko; E Therman; I A Uchida
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  Tertiary trisomy (22q11q),47,+der(22),t(11;22).

Authors:  B M Biederman; C C Lin; R B Lowry; R Somerville
Journal:  Hum Genet       Date:  1980-02       Impact factor: 4.132

  7 in total

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