Literature DB >> 6194924

A further case of monosomy 10qter.

G Evans-Jones, S Walker, P J Howard.   

Abstract

A child with a terminal deletion of chromosome 10 (q26) is described. A comparison of the phenotypic and cytogenetic features is made in the five reported cases of monosomy 10qter. No phenotypic features are found sufficiently characteristic to delineate a syndrome. Enzymatic activities for PGAMA and GOT1 were normal.

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Year:  1983        PMID： 6194924     DOI： 10.1111/j.1399-0004.1983.tb02242.x

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


  4 in total

1.  Terminal deletion of the long arm of chromosome 10.

Authors:  H Curtis; R T Howell; C Cope
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

2.  Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

Authors:  J Brusnický; K M van Heerden; G de Jong; A S Cronjé; A E Retief
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

3.  A case of interstitial deletion of 10q25.2----q26.1.

Authors:  D E Rooney; K Williams; D V Coleman; A Habel
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

4.  Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

Authors:  Fátima Lopes; Gabriela Soares; Miguel Gonçalves-Rocha; Jorge Pinto-Basto; Patrícia Maciel
Journal:  Front Genet       Date:  2017-10-09       Impact factor: 4.599
  4 in total

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