Literature DB >> 437787

Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother.

J P Fryns, H Van den Berghe.   

Abstract

A ring chromosome 22 is described in a 6-year-old mentally retarded boy, who presented a dysmorphic syndrome. The ring chromosome 22 was inherited from the mother, in whom a 46,XX/46,XX,r(22)/45,XY,-15,-22,+t(15;22)(p11;q11) mosaic karyotype was found, indicating a high degree of instability of the chromosome(s) 22 in this woman.

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Year:  1979        PMID: 437787     DOI: 10.1007/bf00273205

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


  4 in total

1.  Phenotypic correlations in patients with ring chromosome 22.

Authors:  A G Hunter; M Ray; H S Wang; D R Thompson
Journal:  Clin Genet       Date:  1977-10       Impact factor: 4.438

2.  Reexamination of a family with a t(13q14q) and a ring D(13) child.

Authors:  E Niebuhr
Journal:  Ann Genet       Date:  1973-09

3.  Monozygotic twins with ring chromosome 22.

Authors:  R H Lindenbaum; M Bobrow; L Barber
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

4.  [The r(22) syndrome, Apropos of 4 new cases].

Authors:  M O Rethore; B Noël; J Couturier; M Prieur; J Lafourcade; J Lejeune
Journal:  Ann Genet       Date:  1976-06
  4 in total
  7 in total

1.  Molecular mechanism in the formation of a human ring chromosome 21.

Authors:  C Wong; H H Kazazian; G Stetten; W C Earnshaw; M L Van Keuren; S E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  1989-03       Impact factor: 11.205

2.  A somatic origin of homologous Robertsonian translocations and isochromosomes.

Authors:  W P Robinson; F Bernasconi; S Basaran; M Yüksel-Apak; G Neri; F Serville; P Balicek; R Haluza; L M Farah; G Lüleci
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

3.  Segregation of a 22 ring chromosome in three generations.

Authors:  C Stoll; M P Roth
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

4.  Inheritance of a ring 14 chromosome.

Authors:  S B Riley; K E Buckton; S G Ratcliffe; J Syme
Journal:  J Med Genet       Date:  1981-06       Impact factor: 6.318

Review 5.  Inherited ring chromosomes: an analysis of published cases.

Authors:  G Kosztolányi; K Méhes; E B Hook
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

6.  Ring chromosome 22: a review of the literature and first report from India.

Authors:  S Mahajan; A Kaur; J Singh
Journal:  Balkan J Med Genet       Date:  2012-06       Impact factor: 0.519

Review 7.  Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements.

Authors:  Natalia V Kovaleva; Philip D Cotter
Journal:  Mol Cytogenet       Date:  2016-01-28       Impact factor: 2.009

  7 in total

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