Literature DB >> 138743

Confirmation of trisomy 22 by trypsin-giemsa staining.

M L Begleiter, P Kulkarni, D J Harris.   

Abstract

A small-for-dates male infant with mental retardation, microcephaly, malformed ears, preauricular sinuses, epicanthal folds, micrognathia, congenital heart diseases, micropenis, and micropolygyria of the parietal and occipital lobes of the cerebral cortex was shown to have a 47,XY,+22 karyotype by trypsin-giemsa banding. Review of reported cases confirms that there may be distinctive trisomy 22 syndrome.

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Year:  1976        PMID： 138743      PMCID： PMC1013483          DOI： 10.1136/jmg.13.6.517

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  Trisomy 22.

Authors:  H Zellweger; V Ionasescu; J Simpson
Journal:  J Genet Hum       Date:  1975-03

2.  Trisomy 22: a clinically identifiable syndrome.

Authors:  O S Alfi; R G Sanger; G M Donnell
Journal:  Birth Defects Orig Artic Ser       Date:  1975

3.  A case of partial trisomy 15.

Authors:  E J Watson; R R Gordon
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

4.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

5.  Precise identification of various chromosomal abnormalities.

Authors:  K Hirschhorn; M Lucas; I Wallace
Journal:  Ann Hum Genet       Date:  1973-04       Impact factor: 1.670

6.  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

7.  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

8.  The question of trisomy 22 syndrome.

Authors:  R M Goodman; M B Katznelson; M Spero; R Shaki; B Padeh; N Sadan
Journal:  J Pediatr       Date:  1971-07       Impact factor: 4.406

9.  [The problem of trisomy 22].

Authors:  R Walbaum; G Samaille; W Scharfman; E Maillard
Journal:  Pediatrie       Date:  1970-03

10.  Trisomy 22. Two new cases and delineation of the phenotype.

Authors:  V B Penchaszadeh; R Coco
Journal:  J Med Genet       Date:  1975-06       Impact factor: 6.318
  10 in total
  6 in total

Review 1.  Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism.

Authors:  E M Kuhn; G E Sarto; B J Bates; E Therman
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

2.  Trisomy 22 and intersex.

Authors:  R M Nicholl; L Grimsley; L Butler; R W Palmer; H C Rees; M O Savage; K Costeloe
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1994-07       Impact factor: 5.747

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.  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

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.  Trisomy 22 in a 20-year-old female.

Authors:  D A Welter; L Scharff; N M Teal; T G Thevaos
Journal:  Hum Genet       Date:  1978-09-19       Impact factor: 4.132
  6 in total

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