Literature DB >> 1081369

[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].

M O Rethoré, J C Kaplan, C Junien, J Cruveiller, B Dutrillaux, A Aurias, S Carpentier, J Lafourcade.   

Abstract

A newborn male trisomic for 12p is compared with three other 12p trisomics already reported in the literature, as well as with three patients monosomic for 12p. A "type and countertype" opposition is observed for five characters: in the trisomy, turricephaly, shortness of the nose, protruding anthelix, wide palms, and increased LDH-B activity; in the monosomy, protruding occiput, large nose, hypoplasia of the anthelix, narrow palms, and decreased LDH-B activity.

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Year:  1975        PMID: 1081369

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


  20 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

2.  Gene dosage effect in human triploid fibroblasts.

Authors:  C Junien; H Rubinson; J C Dreyfus; M C Meinenhofer; N Ravise; J Boué; A Boué
Journal:  Hum Genet       Date:  1976-07-07       Impact factor: 4.132

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

4.  Inversion duplication of chromosome 6 with trisomic codominant expression of HLA antigens.

Authors:  G Pearson; J D Mann; J Bensen; R W Bull
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

Review 5.  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

6.  A newborn child with karyotype 47,XX,+der(12 (12pter leads to 12q12::9q24 leads to 8qter),t(8;12) (q24;q12) pat.

Authors:  H Nielsen; M Vetner; V Holm; S Askjaer; E Reske-Nielsen
Journal:  Hum Genet       Date:  1977-03-14       Impact factor: 4.132

7.  Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.

Authors:  N R Pratt; D T Bulugahapitiya
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

8.  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

9.  Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p.

Authors:  F Serville; C Junien; J C Kaplan; M Gachet; J Cadoux; A Broustet
Journal:  Hum Genet       Date:  1978-11-24       Impact factor: 4.132

10.  Systematic analysis of 95 reciprocal translocations of autosomes.

Authors:  A Aurias; M Prieur; B Dutrillaux; J Lejeune
Journal:  Hum Genet       Date:  1978-12-29       Impact factor: 4.132

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