Literature DB >> 1087857

12P trisomy: a syndrome?

J J Hoo.   

Abstract

A 2 2/3-year-old girl with 12p trisomy resulting from a maternal translocation is presented. Her clinical symptoms are strikingly similar to the other four cases known in the literature. A characteristic combination of symptoms for a 12p trisomy syndrome is delineated.

Entities:  

Mesh：

Year:  1976        PMID： 1087857

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  8 in total

1.  Syndrome +12p. Case report and review.

Authors:  R Tenconi; E Piovan; A Preto; R Magnabosco; C Baccichetti
Journal:  Hum Genet       Date:  1977-11-02       Impact factor: 4.132

Review 2.  Eleven new cases of del(9p) and features from 80 cases.

Authors:  J L Huret; C Leonard; B Forestier; M O Rethoré; J Lejeune
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

3.  Two cases of trisomy 12p due to rcpt (12;21)(p11;p11) inherited through three generations.

Authors:  M Parslow; D Chambers; M Drummond; W Hunter
Journal:  Hum Genet       Date:  1979-04-05       Impact factor: 4.132

Review 4.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

5.  Translocations involving chromosome 12. I. A report of a 12,21 translocation in a woman with recurrent abortions, and a study of the breakpoints and modes of ascertainment of translocations involving chromosome 12.

Authors:  J H Ford; R H Rofe; R P Pavy
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  Double translocation t(7;12),t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome.

Authors:  J B Bijlsma; H F de France; L M Bleeker-Wagemakers; P F Dijkstra
Journal:  Hum Genet       Date:  1978-01-19       Impact factor: 4.132

8.  Trisomy 12p syndrome: de novo occurrence of mosaic trisomy 12p in a mentally retarded boy.

Authors:  I Kondo; H Hamaguchi; T Haneda
Journal:  Hum Genet       Date:  1979-01-25       Impact factor: 4.132
  8 in total

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