Literature DB >> 924448

Syndrome +12p. Case report and review.

R Tenconi, E Piovan, A Preto, R Magnabosco, C Baccichetti.   

Abstract

Familial 12/15 translocation with a child trisomic for the short arm of chromosome 12 (segment of 12.1 leads to pter) is reported. The clinical picture of the child is strikingly similar to previous reports of 12p trisomy. The main symptoms of 12p syndrome are defined.

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Year:  1977        PMID： 924448     DOI： 10.1007/bf00273157

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


  9 in total

1.  12P trisomy: a syndrome?

Authors:  J J Hoo
Journal:  Ann Genet       Date:  1976-12

2.  [Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].

Authors:  B Dutrillaux; C Laurent; J Couturier; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1973-06-13

3.  Identification of partial 12 trisomy by quinacrine fluorescence.

Authors:  I A Uchida; C C Lin
Journal:  J Pediatr       Date:  1973-02       Impact factor: 4.406

4.  [A new technic of analysis of the human karyotype].

Authors:  B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1971-05-17

5.  Trisomy 12p due to familial t(12p-,6q plus) translocation.

Authors:  J P Fryns; H Van Den Berghe
Journal:  Humangenetik       Date:  1974

6.  [Localization of the gene of the glyceraldehyde 3 phosphate dehydrogenase on the distal segment of the short arm of the chromosome 12].

Authors:  M O Rethoré; C Junien; G Malpuech; C Baccichetti; R Tenconi; J C Kaplan; J de Romeuf; J Lejeune
Journal:  Ann Genet       Date:  1976-06

7.  The 12p trisomy syndrome.

Authors:  S Armendares; F Salamanca; S Nava; S Ramirez; J M Cantu
Journal:  Ann Genet       Date:  1975-06

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

Authors:  M O Rethoré; J C Kaplan; C Junien; J Cruveiller; B Dutrillaux; A Aurias; S Carpentier; J Lafourcade
Journal:  Ann Genet       Date:  1975-06

9.  12pter to 12p12.2: possible assignment of human triose phosphate isomerase.

Authors:  M O Rethoré; J C Kaplan; C Junien; J Lejeune
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132
  9 in total
  5 in total

1.  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

2.  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

3.  New chromosomal dysmorphic syndromes. 4. Trisomy 12p.

Authors:  S Stengel-Rutkowski; A Albert; J D Murken; K Zahn-Messow; A Rodewald; M Zankl; H Saule; J Stene
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

4.  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

5.  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
  5 in total

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