Literature DB >> 133078

21 ring chromosome in a girl with stigmata of Down's and G deletion I syndromes.

A Serra, D P Singh-Kahlon.   

Abstract

An 11-year-old girl with severe psychomotor retardation and other congenital anomalies characteristic of Down's and G deletion I syndromes, was confirmed to be a chromosome 21 ring carrier by R- and G-banding techniques. The dynamics of the ring evolution resulting in a population of complex unstable rings, as in our index case, and the effects of the consequent ring mosaicism are briefly discussed.

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Year:  1976        PMID: 133078     DOI: 10.1007/bf00447285

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


  15 in total

1.  Dosage effect of SOD-A gene in 21-trisomic cells.

Authors:  N Crosti; A Serra; A Rigo; P Viglino
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

2.  A case of a girl with a 21 ring chromosome.

Authors:  M Kucerová; Z Polívková
Journal:  Hum Hered       Date:  1974       Impact factor: 0.444

3.  A child with a 21-ring chromosome, 45XX,21minus-46,XX,21r investigated with the banding technique.

Authors:  K Shibata; C Waldenmaier; W Hirsch
Journal:  Humangenetik       Date:  1973

4.  [A new technic of analysis of the human karyotype].

Authors:  B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1971-05-17

5.  [Ring G-chromosome. Report of two cases and review of literature].

Authors:  K P Grosse; B Böwing; F Hopfengärtner; G Reinhardt; C F Sitzmann
Journal:  Humangenetik       Date:  1971

6.  Human ring chromosomes: a report of five cases.

Authors:  D J Picciano; C M Berlin; S L Davenport; C B Jacobson
Journal:  Ann Genet       Date:  1972-12

7.  [On the duplication of circular structures].

Authors:  J Lejeune
Journal:  Ann Genet       Date:  1968-06

8.  [A case with mosaicism of partial monosomy G- monosomy G in peripheral blood lymphocytes].

Authors:  M Bauchinger; E Schmid; E Röttinger
Journal:  Humangenetik       Date:  1968

9.  The G deletion syndromes.

Authors:  R J Warren; D L Rimoin
Journal:  J Pediatr       Date:  1970-10       Impact factor: 4.406

10.  A t(21q21q) ring chromosome.

Authors:  E Orye; M Craen
Journal:  Hum Hered       Date:  1974       Impact factor: 0.444

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  3 in total

1.  Prenatal detection of an unstable ring 21 chromosome.

Authors:  G Stetten; B Sroka; V L Corson; C D Boehm
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

2.  A case of r(21) with stigmata of atypical Down syndrome.

Authors:  A Ieshima; N Ogasawara; Y Yamamoto; Y Kuroki
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

3.  A ring chromosome 9 in an infant with malformations.

Authors:  T Inouye; H Matsuda; K Shimura; M Hamazaki; I Kikuta; K Iinuma; Y Nakagome
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

  3 in total

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