Literature DB >> 1018316

Partial trisomy D: a diagnostic and cytogenetic dilemma.

M M Cohen, A Rosenmann, J Dagan, C Legum.   

Abstract

An 18-month-old proposita with psychomotor retardation and other congenital abnormalities is presented. Chromosomal analysis of both parents proved normal. However, the karyotype of the proposita contained 47 chromosomes in both lymphocytes and cultured fibroblasts. The marker chromosome proved to be a deleted No. 14 or 15. Comparison of the reported cases of partial trisomy D indicates that a definitive clinical syndrome is not apparent in either case.

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Year:  1976        PMID： 1018316      PMCID： PMC1013490          DOI： 10.1136/jmg.13.6.535

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  11 in total

1.  [Partial 14q trisomy. I. Partial 14q trisomy by maternal translocation t(10;14) (p15.2;q22)].

Authors:  O Raoul; M O Rethoré; B Dutriliaux; L Michon; J Lejeune
Journal:  Ann Genet       Date:  1975-03

2.  An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.

Authors:  M M Cohen; A Ornoy; A Rosenmann; G Kohn
Journal:  Ann Genet       Date:  1975-06

3.  New chromosomal syndromes.

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

4.  [Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21].

Authors:  M O Rethoré; B Dutrillaux
Journal:  Ann Genet       Date:  1973-12

5.  Inherited partial duplication of chromosome No. 15.

Authors:  A Fujimoto; J W Towner; A J Ebbin; E J Kahlstrom; M G Wilson
Journal:  J Med Genet       Date:  1974-09       Impact factor: 6.318

6.  Partial trisomy of chromosome 15.

Authors:  C E Parker; O S Alfi
Journal:  Lancet       Date:  1972-05-13       Impact factor: 79.321

7.  Partial trisomy 15.

Authors:  R E Magenis; K M Overton; J A Reiss; J P Macfarlane; F Hecht
Journal:  Lancet       Date:  1972-12-23       Impact factor: 79.321

8.  Identification of each human chromosome with a modified Giemsa stain.

Authors:  S R Patil; S Merrick; H A Lubs
Journal:  Science       Date:  1971-08-27       Impact factor: 47.728

9.  Partial trisomy of chromosome number 15 identified by trypsin-Giemsa banding.

Authors:  B F Crandall; H M Muller; H N Bass
Journal:  Am J Ment Defic       Date:  1973-03

10.  Partial trisomy 14q-- and pseudoxanthoma elasticum.

Authors:  S Muldal; B A Enoch; A Ahmed; R Harris
Journal:  Clin Genet       Date:  1973-06       Impact factor: 4.438
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  2 in total

Review 1.  Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.

Authors:  G Valkova; M Stefanova
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

2.  An analysis of the parental age effect for inv dup (15).

Authors:  J M Connor; D H Gilmore
Journal:  J Med Genet       Date:  1984-06       Impact factor: 6.318
  2 in total

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