Literature DB >> 149756

The occurrence of a ring 18, an accessory bisatellited fragment, and trisomy 21 within one sibship.

E Grace, J Sills.   

Abstract

A family is presented in which there were three different chromosome abnormalities in the children although the parents were cytogenetically normal. The proband had the karyotype 46,XX, r(18) (p11q23), a phenotypically normal brother was 47,XY,+mar, and another brother was a typical case of Down's syndrome, karyotype 47,XY,+21. There is nothing in the parents' history that provides grounds for a hypothesis to explain the coincidence of the abnormalities.

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Year:  1978        PMID: 149756     DOI: 10.1007/bf00396487

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


  4 in total

1.  Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

Authors:  R H Lindenbaum; M Bobrow
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

2.  [Transmission of a small supernumerary chromosome in a family with two cases of 21 trisomy].

Authors:  N Ricci; B Ventimiglia; G Preto
Journal:  Ann Genet       Date:  1968-06

3.  [Familial translocation t(6; 18) (q16; q16; q23) with free 21 trisomy].

Authors:  R Tenconi; C Baccichetti; N Dussini; G Panizza
Journal:  Ann Genet       Date:  1974-12

4.  Clinical features associated with the chromosomal deletion syndrome manifested by an 18 ring (46,18r).

Authors:  D M Brasfield; S C Finley; W H Finley
Journal:  South Med J       Date:  1973-06       Impact factor: 0.954

  4 in total
  5 in total

1.  Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.

Authors:  K Miller; B Pabst; H Ritter; P Nürnberg; R Siebert; J Schmidtke; M Arslan-Kirchner
Journal:  Hum Genet       Date:  2003-02-06       Impact factor: 4.132

2.  Down syndrome in two siblings with 47,XY,+21 and 46,XY/46,XY,-21,+t(21q;21q).

Authors:  V M Der Kaloustian; R Masri; A Khudr; F Talj; B Libbus; M Nabulsi; F P Khouri
Journal:  Hum Genet       Date:  1987-01       Impact factor: 4.132

3.  The genetic significance of accessory bisatellited marker chromosomes.

Authors:  P Steinbach; M Djalali; I Hansmann; E Kattner; M Meisel-Stosiek; H D Probeck; A Schmidt; M Wolf
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

4.  A 13-year-old girl with karyotype 47, XX, +i (22) (qll).

Authors:  A Smith; I S Fraser; R P Shearman
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318

Review 5.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

  5 in total

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