Literature DB >> 3712400

Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.

P R Scarbrough, A J Carroll, S C Finley, K Hamerick.   

Abstract

A male infant, partially trisomic for a small segment of chromosomes 6 and 22 resulting from a maternal translocation, is described. Comparison of the phenotypic features of the proband with those noted in partial 6p and partial 22 trisomies revealed some common features found in both chromosome anomalies but especially reinforced those features thought to be characteristic of 6p trisomy syndrome.

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Mesh：

Year:  1986        PMID： 3712400      PMCID： PMC1049581          DOI： 10.1136/jmg.23.2.185

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


  7 in total

1.  Partial trisomy 6p.

Authors:  A Bernheim; R Berger; G Vaugier; J C Thieffry; Y Matet
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

2.  A 6p trisomy detected in a family with a "giant satellite".

Authors:  H Chiyo; Y Kuroki; I Matsui; K Yanagida; Y Nakagome
Journal:  Humangenetik       Date:  1975-10-20

3.  Partial trisomy 6p due to familial translocation t(6;20)(p21;p13). A new syndrome?

Authors:  M H Breuning; J B Bijlsma; H F de France
Journal:  Hum Genet       Date:  1977-08-31       Impact factor: 4.132

4.  Inversion duplication of chromosome 6 with trisomic codominant expression of HLA antigens.

Authors:  G Pearson; J D Mann; J Bensen; R W Bull
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

5.  A family with a presumptive C-F translocation in five generations.

Authors:  A J Therkelsen; T Klinge; K Henningsen; M Mikkelsen; G Schmidt
Journal:  Ann Genet       Date:  1971-03

6.  Partial trisomy 6p with karyotype 46,XY,der(22), t(6;22)(p22;q13)mat.

Authors:  G B Côté; S Papadakou-Lagoyanni; S Sbyrakis
Journal:  J Med Genet       Date:  1978-12       Impact factor: 6.318

7.  Trisomy 6p22 leads to 6pter due to familial t(6;13)(p22;q34 or 33) translocation.

Authors:  G Rosi; G Venti; G Migliorini Brushelli; E Donti; V Bocchini; R Armellini
Journal:  Hum Genet       Date:  1979-09-02       Impact factor: 4.132
  7 in total
  1 in total

Review 1.  Genetic factors in congenital diaphragmatic hernia.

Authors:  A M Holder; M Klaassens; D Tibboel; A de Klein; B Lee; D A Scott
Journal:  Am J Hum Genet       Date:  2007-04-04       Impact factor: 11.025
  1 in total

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