Literature DB >> 730186

Partial trisomies 13 and 22 due to nondisjunction of a maternal reciprocal translocation, t(13;22)(q22;q11).

O Mutchinick, L Ruz, R Jiménez.   

Abstract

A family is reported in which the propositus has an extra G-like chromosome with an unusual G-banding pattern. Cytogenetic family studies showed that the mother is a carrier of a balanced reciprocal translocation t(13;22), which does not affect the size and morphology of the chromosomes involved. The propositus has a 47,XY,+der(22),t(13;22)(q22;q11) karyotype and is therefore partially trisomic for the distal third of the long arm of chromosome 13 and for a very small part of chromosome 22. The clinical findings are presented and compared with those of other reported cases of partial trisomies 13 and 22.

Mesh:

Year:  1978        PMID: 730186     DOI: 10.1007/bf00277579

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


  12 in total

1.  New chromosomal syndromes.

Authors:  R C Lewandowski; J J Yunis
Journal:  Am J Dis Child       Date:  1975-04

2.  A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21).

Authors:  M Jotterand; E Juillard
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

3.  Partial trisomy 22: a recognizable syndrome.

Authors:  P Garlinger; S A McGeary; E Magenis
Journal:  Clin Genet       Date:  1977-07       Impact factor: 4.438

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

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

5.  An inherited small extra chromosome: a mother with 46,XX,t(17;22)(pl;ql) and a son with 47,XY,+der(22)mat.

Authors:  D S Borgaonkar; V A McKusick; P A Farber
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

6.  Trisomy for the distal segment of chromosome 13: a new syndrome.

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

7.  Inherited translocations in two families (t(14q+;10q-) and t(13q-;21q+)).

Authors:  T Talvik; A V Mikelsaar; R Mikelsaar; M Käosaar; S Tüür
Journal:  Humangenetik       Date:  1973-09-20

8.  Cat-eye syndrome, a partial trisomy 22.

Authors:  E M Bühler; K Méhes; H Müller; G R Stalder
Journal:  Humangenetik       Date:  1972

9.  Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

Authors:  A I Taylor
Journal:  J Med Genet       Date:  1968-09       Impact factor: 6.318

10.  Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

Authors:  H J Kim; L Y Hsu; L C Goldsmith; L Strauss; K Hirschhorn
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318

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  5 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

2.  Familial translocation leading to partial trisomy 13: report of three cases.

Authors:  S A Tharapel; R C Lewandowski; M K Kukolich
Journal:  Indian J Pediatr       Date:  1984 Jul-Aug       Impact factor: 1.967

3.  The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

Authors:  F Rivas; H Rivera; M L Plascencia; B Ibarra; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  The aetiology of the cat eye syndrome reconsidered.

Authors:  G Guanti
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

5.  Incomplete trisomy 22. III. Mosaic-trisomy 22 and the problem of full trisomy 22.

Authors:  A Schinzel
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

  5 in total

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