Literature DB >> 7401136

A severely retarded 18-year-old boy with tertiary partial trisomy 14.

A Smith, G den Dulk, G Elliott.   

Abstract

An 18-year-old severely mentally and physically retarded boy was found to have an unbalanced chromosome complement 47,XY, + 14q-. He had the characteristic facial dysmorphis, abnormal hands, and other features described previously in cases of partial trisomy 14, but appears to be the oldest case reported. His mother is a reciprocal translocation carrier, and lack of other carriers in the family is noteworthy.

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Mesh：

Year:  1980        PMID： 7401136      PMCID： PMC1048554          DOI： 10.1136/jmg.17.3.230

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


  10 in total

1.  Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

Authors:  R H Lindenbaum; M Bobrow
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

2.  Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors:  P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal:  Exp Cell Res       Date:  1960-09       Impact factor: 3.905

3.  Familial partial 14 trisomy.

Authors:  J Q Miller; K Willson; H Wyandt; M A Jaramillo; T S McConnell
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

4.  A simple method for R banding of human chromosomes, showing a pH-dependent connection between R and G bands.

Authors:  J Sehested
Journal:  Humangenetik       Date:  1974-01-22

5.  A rapid banding technique for human chromosomes.

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

6.  Localization of heterochromatin in human chromosomes.

Authors:  F E Arrighi; T C Hsu
Journal:  Cytogenetics       Date:  1971

7.  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

8.  Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence.

Authors:  P W Allderdice; O J Miller; D A Miller; W R Breg; E Gendel; C Zelson
Journal:  Humangenetik       Date:  1971

9.  Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature.

Authors:  J Simpson; H Zellweger
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318

10.  [Partial trisomy 14q II.--Partial trisomy 14q due to a maternal t(12; 14) (q24.4; q21)].

Authors:  C Turleau; J Grouchy; F Bocquentin; M Roubin; F C Colin
Journal:  Ann Genet       Date:  1975-03
  10 in total
  2 in total

1.  Pubertal development in partial trisomy 14q.

Authors:  A Smith; L S Ong; R G Beran
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

Review 2.  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 in total

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