Literature DB >> 669714

Patau's syndrome and 13q21q translocation.

A Pérez-Castillo, J A Abrisqueta.   

Abstract

This paper reports the case of a one-day-old male child presenting the typical features of Patau's syndrome. The cytogenetic study by means of conventional techniques and GTG and QFQ banding techniques showed that the chromosomal pattern of the propositus was 46,XYq+,-21,+t(13q21q) 15ps+,22ps+, and that the nondisjunction that originated the translocation and trisomy had occurred in the mother.

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Year:  1978        PMID: 669714     DOI: 10.1007/BF00291315

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


  8 in total

1.  Transmission of a t(13q22q) chromosome observed in three generations with segregation of the translocation D1-trisomy syndrome.

Authors:  T Abe; M Morita; K Kawai; S Misawa; H Kanai; G Hirose; H Fujita
Journal:  Humangenetik       Date:  1975-09-20

2.  Structure and inheritance of some heterozygous Robertsonian translocation in man.

Authors:  A Daniel; P R Lam-Po-Tang
Journal:  J Med Genet       Date:  1976-10       Impact factor: 6.318

3.  Nonrandomness of translocations in man: preferential entry of chromosomes into 13-15-21 translocations.

Authors:  F Hecht; M P Case; E W Lovrien; J V Higgins; H C Thuline; J Melnyk
Journal:  Science       Date:  1968-07-26       Impact factor: 47.728

4.  An analysis of the break points of structural rearrangements in man.

Authors:  P A Jacobs; K E Buckton; C Cunningham; M Newton
Journal:  J Med Genet       Date:  1974-03       Impact factor: 6.318

5.  A rapid banding technique for human chromosomes.

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

6.  Identification of human chromosomes by DNA-binding fluorescent agents.

Authors:  T Caspersson; L Zech; C Johansson; E J Modest
Journal:  Chromosoma       Date:  1970       Impact factor: 4.316

Review 7.  Chromosomal variability in the D1 trisomy syndrome. Three cases and review of the literature.

Authors:  M B Taylor; R C Juberg; B Jones; W A Johnson
Journal:  Am J Dis Child       Date:  1970-10

8.  Possible non random selection of D group chromosomes involved in centric-fusion translocations.

Authors:  J D Rowley; E Pergament
Journal:  Ann Genet       Date:  1969-09
  8 in total
  1 in total

1.  Parental origin of de novo chromosome rearrangements.

Authors:  J Chamberlin; R E Magenis
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

  1 in total

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