Literature DB >> 7398113

Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter.

C G Palmer, S Schwartz, M E Hodes.   

Abstract

The transmission of a t(22q;22q) translocation is reported. The mother had had multiple miscarriages and carried both t(22q;22q) and t(22p;22p) portions of the rearrangement in a portion of her cells. The phenotypically normal daughter, who was the proband and was referred because of multiple miscarriages, also carried the t(22q;22q) translocation.

Mesh：

Year:  1980        PMID： 7398113     DOI： 10.1111/j.1399-0004.1980.tb00173.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  27 in total

1.  Uniparental disomy and gene localization.

Authors:  A A Schinzel
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

2.  Homologous Robertsonian translocation (21q21q) and abortions.

Authors:  T Sudha; P M Gopinath
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

3.  Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

Authors:  R Voss; E Ben-Simon; A Avital; S Godfrey; J Zlotogora; J Dagan; Y Tikochinski; J Hillel
Journal:  Am J Hum Genet       Date:  1989-09       Impact factor: 11.025

4.  Chromosomal basis of recurrent fetal losses.

Authors:  A T Tharapel; R S Wilroy
Journal:  Indian J Pediatr       Date:  1986 Jul-Aug       Impact factor: 1.967

5.  A deletion in chromosome 22 can cause DiGeorge syndrome.

Authors:  A de la Chapelle; R Herva; M Koivisto; P Aula
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Cytogenetic contribution to uniparental disomy (UPD).

Authors:  Thomas Liehr
Journal:  Mol Cytogenet       Date:  2010-03-29       Impact factor: 2.009

7.  Maternal uniparental disomy 22 has no impact on the phenotype.

Authors:  A A Schinzel; S Basaran; F Bernasconi; B Karaman; M Yüksel-Apak; W P Robinson
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

8.  Normal phenotype with paternal uniparental isodisomy for chromosome 21.

Authors:  J L Blouin; D Avramopoulos; C Pangalos; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

9.  Molecular studies of DiGeorge syndrome.

Authors:  W J Fibison; M Budarf; H McDermid; F Greenberg; B S Emanuel
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

10.  De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

Authors:  D T Bonthron; S J Smith; J Fantes; C M Gosden
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025
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