Literature DB >> 1184006

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

T Abe, M Morita, K Kawai, S Misawa, H Kanai, G Hirose, H Fujita.   

Abstract

A case of an inherited type of D/G translocation D1-trisomy syndrome was described. A female proposita who had the clinical signs of D1-trisomy syndrome was found to have a chromosome complement of 46,XX,--G,+t(DqGq). examination of Q- and G-stained karyotypes revealed that the chromosomes involved in the translocation were members of Nos. 13 and 22, or t(13q22q) with breaks at p12 of both chromosomes. C-stained figures also showed a large heterochromatin block in its centromeric region. The t(13q22q) chromosome was transmitted from the paternal grandmother of the proposita through at least three generations.

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Year:  1975        PMID: 1184006     DOI: 10.1007/bf00279186

Source DB:  PubMed          Journal:  Humangenetik        ISSN: 0018-7348


  17 in total

1.  Robertsonian translocations in man: evidence for prezygotic selection.

Authors:  J L Hamerton
Journal:  Cytogenetics       Date:  1968

2.  Points of exchange in a human no. 5 ring chromosome.

Authors:  Y Nakagome; K Iinume; K Taniguchi
Journal:  Cytogenet Cell Genet       Date:  1973

3.  Dicentric and monocentric Robertsonian translocations in man.

Authors:  E Niebuhr
Journal:  Humangenetik       Date:  1972

4.  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 5.  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

6.  [Autoradiographic studies on DNA-replication of human mitotic chromosomes].

Authors:  T Abe
Journal:  Jinrui Idengaku Zasshi       Date:  1969-09

7.  The internal order of the interphase nucleus.

Authors:  F Vogel; T M Schroeder
Journal:  Humangenetik       Date:  1974

8.  Reciprocal translocation versus centric fusion between two No. 13 chromosomes. A case of 46,XX,-13,+t(13;13)(p12;q13) and a case of 46,XY,-13,+t(13;13)(p12;p12).

Authors:  L Y Hsu; H J Kim; E Sujansky; B Kousseff; K Hirschhorn
Journal:  Cytogenet Cell Genet       Date:  1973

9.  Hematologic changes in the D1 trisomy syndrome.

Authors:  S Walzer; P S Gerald; G Breau; D O'Neill; L K Diamond
Journal:  Pediatrics       Date:  1966-09       Impact factor: 7.124

10.  Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl.

Authors:  D A Hungerford
Journal:  Stain Technol       Date:  1965-11
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  3 in total

1.  The fate of DNA satellites I, II, III and ribosomal DNA in a familial dicentric chromosome 13:14.

Authors:  J R Gosden; C Gosden; S Lawrie; A R Mitchell
Journal:  Hum Genet       Date:  1978-03-17       Impact factor: 4.132

2.  Patau's syndrome and 13q21q translocation.

Authors:  A Pérez-Castillo; J A Abrisqueta
Journal:  Hum Genet       Date:  1978-06-27       Impact factor: 4.132

Review 3.  Pharmacological interventions for apathy in Alzheimer's disease.

Authors:  Myuri T Ruthirakuhan; Nathan Herrmann; Eleenor H Abraham; Sarah Chan; Krista L Lanctôt
Journal:  Cochrane Database Syst Rev       Date:  2018-05-04
  3 in total

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