Literature DB >> 7334510

Unilateral radial aplasia and trisomy 22 mosaicism.

F Dulitzky, F Shabtal, J Zlotogora, I Halbrecht, E Elian.   

Abstract

A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells is emphasised, especially in cases of asymmetry where mosaicism is suspected.

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Year:  1981        PMID： 7334510      PMCID： PMC1048799          DOI： 10.1136/jmg.18.6.473

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


  8 in total

1.  Trisomy 22 mosaicism.

Authors:  F Mollica; G Sorge; L Pavone
Journal:  J Med Genet       Date:  1977-06       Impact factor: 6.318

2.  Triple mosaicism 45,XY,--18/46, XY/47,XY,+18.

Authors:  M Frydman; F Shabtai; Y Barak; I Halbrecht; E Elian
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

3.  [47,XX,18+-46,XX-45,XX,18- mosaicism in a child with Edward's syndrome].

Authors:  F D Bricarelli; F Gimelli; C Borrone
Journal:  Ann Genet       Date:  1971-09

4.  Group E triple cell line mosaicism with Sprengel's deformity and other asymmetrical congenital abnormalities. Report of a case.

Authors:  J A Backus; G G Darien
Journal:  Am J Clin Pathol       Date:  1968-04       Impact factor: 2.493

5.  Disappearing mosaicism. Suggested mechanism is growth advantage of normal over abnormal cell population.

Authors:  P H La Marche; A B Heisler; N S Kronemer
Journal:  R I Med J       Date:  1967-03

6.  Complete trisomy 22.

Authors:  M H Shokeir
Journal:  Clin Genet       Date:  1978-09       Impact factor: 4.438

7.  [Karyotype 46,XY,22p+ in a male patient (author's transl)].

Authors:  N Trabalza; M Furbetta; G Rosi; E Donti; G Venti; G Migliorini Bruschelli
Journal:  J Genet Hum       Date:  1978-06

8.  Ag-staining of nucleolus organizer regions of chromosomes after A-,C-, G-, or R-banding procedures.

Authors:  R Tantravahi; D A Miller; O J Miller
Journal:  Cytogenet Cell Genet       Date:  1977
  8 in total
  1 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
  1 in total

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