Literature DB >> 7327568

Proximal trisomy 13. A family with balanced reciprocal translocation t(8;13) in seven members and Robertsonian translocation t(13;14) in three members.

S Gilgenkrantz, C Defeche, S Stehlin, M J Gregoire.   

Abstract

The cytogenetic analysis of a 12-year-old retarded boy revealed a partial proximal trisomy 13, resulting from a maternal translocation t(8;13). A familial study shows this translocation in seven persons and also a Robertsonian translocation t(13q;14q) in three sons of a t(8;13) father. A review of partial proximal trisomies 13 shows a variability in the phenotypic expression.

Entities:  

Mesh：

Year:  1981        PMID： 7327568     DOI： 10.1007/bf00282833

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


  21 in total

1.  A PROBABLE CASE OF INCOMPLETE TRISOMY OF A CHROMOSOME OF THE 13-15 GROUP.

Authors:  J ISHMAEL; K M LAURENCE
Journal:  J Med Genet       Date:  1965-06       Impact factor: 6.318

2.  Interchromosomal effect in balanced translocations.

Authors:  C G Stoll; E Flori; D Beshara
Journal:  Birth Defects Orig Artic Ser       Date:  1978

3.  Cleft palate and multiple anomalies in one of two siblings with partial 13 trisomy.

Authors:  C I Kaye; C W Booth; D Meeker; H L Nadler
Journal:  Cleft Palate J       Date:  1977-07

4.  Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim.

Authors:  A Schinzel; W Schmid
Journal:  Humangenetik       Date:  1974

5.  Chromosome anomalies in three successive abortuses due to paternal translocation, t(13q-18q+).

Authors:  T Kajii; J Meylan; K Mikamo
Journal:  Cytogenet Cell Genet       Date:  1974

6.  [Partial trisomy 13 in a family with balanced translocation (13 q-;16 q plus) (author's transl)].

Authors:  G Schwanitz; K P Grosse; U Semmelmayer; H Mangold
Journal:  Monatsschr Kinderheilkd       Date:  1974-06

7.  Trisomy for the proximal segment of the long arm of chromosome 13: a new entity?

Authors:  J I Escobar; J J Yunis
Journal:  Am J Dis Child       Date:  1974-08

8.  Partial trisomy 13, 47XY,, resulting from a maternally inherited translocation, t(13;17). Repository identification No. GM-1555.

Authors:  A Schinzel; M M Aronson; A E Greene; L L Coriell
Journal:  Cytogenet Cell Genet       Date:  1979

9.  Familial transmission of a translocation between two non-homologous large acrocentric chromosomes. Clinical, cytogenetic and autoradiographic studies.

Authors:  P Jacobsen; M Mikkelsen; A Froland; A Dupont
Journal:  Ann Hum Genet       Date:  1966-05       Impact factor: 1.670

10.  Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

Authors:  B Noel; B Quack; M O Rethore
Journal:  Clin Genet       Date:  1976-06       Impact factor: 4.438
View more
  1 in total

1.  Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Authors:  S A Tharapel; R C Lewandowski; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.