Literature DB >> 457115

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

M Parslow, D Chambers, M Drummond, W Hunter.   

Abstract

Two cases of trisomy 12p due to a familial translocation t(12;21) (p11;p11) inherited through three generations are presented. The clinical features of both affected individuals are consistent with those previously reported. Study of the NORs by silver staining showed translocation of the NOR from chromosome 21 onto the der(12) and suggested that the activity of this site has been suppressed in some carriers.

Entities:  

Mesh：

Year:  1979        PMID： 457115     DOI： 10.1007/bf00321017

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


  13 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.  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

3.  An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes.

Authors:  S E Bloom; C Goodpasture
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

4.  t(9/22) with centric fission and NOR translocation leading to a case of pure 9p trisomy in the offspring.

Authors:  N Archidiacono; M Rocchi; U de Vonderweid; G Filippi
Journal:  Hum Genet       Date:  1978-02-16       Impact factor: 4.132

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

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

6.  [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

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.  Evidence for the inheritance of silver-stained nucleolus organizer regions.

Authors:  V D Marković; R G Worton; J M Berg
Journal:  Hum Genet       Date:  1978-03-17       Impact factor: 4.132

9.  Trisomy 12p syndrome. Evaluation of a family with a t(12;21) (p12.1;p11) translocation with unbalanced offspring.

Authors:  I L Hansteen; L Schirmer; S Hestetun
Journal:  Clin Genet       Date:  1978-04       Impact factor: 4.438

10.  Partial trisomy 12p due to t(12;21)pat translocation.

Authors:  B Biederman; P Bowen; C Robertson; D Schiff
Journal:  Hum Genet       Date:  1977-04-07       Impact factor: 4.132
View more
  4 in total

1.  A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype.

Authors:  L L Estabrooks; A N Lamb; H N Kirkman; N P Callanan; K W Rao
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

Review 2.  A rare reciprocal translocation (12;21) segregating for nine generations.

Authors:  S Koskinen; T Onnelainen; A de la Chapelle; J Kere
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

3.  Familial reciprocal translocation t(9;13)(p11;p12) investigated by silver staining and in situ hybridisation.

Authors:  J M Varley; J Gosden; M Hultén
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
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.