Literature DB >> 1184009

A new contribution to the study of 22 trisomy.

A Pérez-Castillo, J A Abrisqueta, M A Martin-Lucas, C Goday, J Del Mazo, V Aller.   

Abstract

The case of a 2 1/2-month-old male child with intrauterine distrophy features and multiple congenital malformations is presented. Cytogenetic studies of the child and his parents, completed with Q- and G-banding techniques led us to conclude that it is a case of 22 trisomy inherited from his mother.

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Mesh：

Year:  1975        PMID： 1184009     DOI： 10.1007/bf00279192

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


  11 in total

1.  ENLARGED SHORT ARM OF A SMALL ACROCENTRIC CHROMOSOME IN GRANDFATHER, MOTHER AND CHILD, THE LATTER WITH DOWN'S SYNDROME.

Authors:  A J THERKELSEN
Journal:  Cytogenetics       Date:  1964

2.  CYTOGENETICS OF DOWN'S SYNDROME (MONGOLISM). I. DATA ON A CONSECUTIVE SERIES OF PATIENTS REFERRED FOR GENETIC COUNSELLING AND DIAGNOSIS.

Authors:  J L HAMERTON; F GIANNELLI; P E POLANI
Journal:  Cytogenetics       Date:  1965

3.  Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors:  P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal:  Exp Cell Res       Date:  1960-09       Impact factor: 3.905

4.  Probable trisomy 22 identified by fluorescent and trypsin-giemsa banding.

Authors:  H N Bass; B F Crandall; R S Sparkes
Journal:  Ann Genet       Date:  1973-09

5.  Identification of human chromosomes by DNA-binding fluorescent agents.

Authors:  T Caspersson; L Zech; C Johansson; E J Modest
Journal:  Chromosoma       Date:  1970       Impact factor: 4.316

6.  A further example of familial Gp+ associated with trisomy G.

Authors:  I Subrt
Journal:  Humangenetik       Date:  1970

7.  Case report of an extra, small, acrocentric chromosome in a non-mongoloid girl.

Authors:  K Kaijser
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

8.  Trisomy for the proximal segment of the long arm of chromosome 13: a new entity?

Authors:  J I Escobar; J J Yunis
Journal:  Am J Dis Child       Date:  1974-08

9.  Three non-mongoloid patients of similar phenotype with an extra G-like chromosome.

Authors:  K H Gustavson; V Hitrec; B Santesson
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

10.  Trisomy 22: a clinical entity.

Authors:  L Y Hsu; L R Shapiro; M Gertner; E Lieber; K Hirschhorn
Journal:  J Pediatr       Date:  1971-07       Impact factor: 4.406
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  6 in total

1.  A further case of a 22;22 Robertsonian translocation associated with recurrent abortions.

Authors:  M Mameli; S Cardia; A Milia; M Seabright
Journal:  Hum Genet       Date:  1978-04-24       Impact factor: 4.132

2.  Trisomy 22 in a newborn with multiple malformations.

Authors:  I Voiculescu; E Back; A M Duncan; H Schwaibold; W Schempp
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

3.  A case of trisomy 22 with a probable Robertsonian translocation 21/22.

Authors:  S Lalchev; M Tzancheva; R Markova
Journal:  Hum Genet       Date:  1978-12-18       Impact factor: 4.132

4.  Trisomy 22 with 'cat eye' anomaly.

Authors:  J Cervenka; C A Hansen; R A Franciosi; R J Gorlin
Journal:  J Med Genet       Date:  1977-08       Impact factor: 6.318

5.  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

6.  Incomplete trisomy 22. III. Mosaic-trisomy 22 and the problem of full trisomy 22.

Authors:  A Schinzel
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  6 in total

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