Literature DB >> 2918543

Familial distal trisomy 8(q24.13----qter).

D R Romain1, R A Bloxham, L M Columbano-Green, C J Chapman, R G Parfitt, R H Smythe, H Cairney.   

Abstract

Trisomy for the distal part of the long arm of chromosome 8(q24.13----qter) is described in three sibs. The anomaly arose as an adjacent 1 meiotic segregation from a balanced reciprocal translocation t(1;8)(q44; q24.13)mat.

Entities:  

Mesh：

Year:  1989        PMID： 2918543      PMCID： PMC1015566          DOI： 10.1136/jmg.26.2.133

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  Dermatoglyphic patterns in trisomy 8 syndrome.

Authors:  A Rodewald; H Zankl; H Wischerath; B Borkowsky-Fehr
Journal:  Clin Genet       Date:  1977-07       Impact factor: 4.438

2.  Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome.

Authors:  A Schinzel
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

3.  Partial trisomy 8 (8q24) and the trisomy-8 syndrome.

Authors:  O Sánchez; J J Yunis
Journal:  Humangenetik       Date:  1974

4.  A child with a recombinant of chromosome 8 inherited from her carrier mother.

Authors:  I C Barnes; D Kumar; R J Bell
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

Review 5.  Partial duplication 8q12----q21.2 in two sibs with maternally derived insertional and reciprocal translocations: case reports and review of partial duplications of chromosome 8.

Authors:  A P Walker; M Bocian
Journal:  Am J Med Genet       Date:  1987-05

6.  Familial translocation t(8;14) with a case of tertiary trisomy, +14q-.

Authors:  D Soudek; P Hunter; S O'Shaughnessy; N E Simpson; V Soudek
Journal:  Birth Defects Orig Artic Ser       Date:  1978

7.  Meiotic segregation in familial reciprocal translocation t(8q;22q).

Authors:  E Gödde-Salz; S Oesinghaus; W Grote
Journal:  Am J Med Genet       Date:  1982-02
  7 in total
  2 in total

1.  The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)].

Authors:  L Hills; E Earle; M Wilson; V Petrovic; L E Voullaire; M Leversha; D M Danks; K H Choo
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

2.  FRAXF in a patient with chromosome 8 duplication.

Authors:  A M Vianna-Morgante; R C Mingroni-Netto; A C Barbosa; P A Otto; C Rosenberg
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.