Literature DB >> 844879

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

H Nielsen, M Vetner, V Holm, S Askjaer, E Reske-Nielsen.   

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Year:  1977        PMID: 844879     DOI: 10.1007/BF00446627

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


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  5 in total

1.  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

2.  The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability.

Authors:  T Caspersson; G Lomakka; L Zech
Journal:  Hereditas       Date:  1972       Impact factor: 3.271

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

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

4.  The 12p trisomy syndrome.

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

5.  [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
  5 in total
  8 in total

Review 1.  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

2.  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

3.  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

4.  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

5.  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

6.  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

7.  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

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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