Literature DB >> 6758992

Interstitial deletion of chromosome 7: a case report and review of the literature.

J Gibson, P M Ellis, J S Forsyth.   

Abstract

A de novo deletion 7q11 leads to q21.2 was identified in a newborn with genital and other minor clinical abnormalities and some degree of psychomotor retardation. A review of the literature revealed a number of cases of deletion 7q, which can be categorized into three groups according to their breakpoints. Attempts to correlate phenotype with genotype in these cases have been only moderately successful, and as yet only deletion 7q32 leads to qter can be associated with a definite clinical syndrome, although a tentative syndrome may be postulated in association with deletion of region 7q22 leads to 7q31.

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Year:  1982        PMID: 6758992     DOI: 10.1111/j.1399-0004.1982.tb01442.x

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


  6 in total

1.  Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7.

Authors:  K Naritomi; N Hyakuna; Y Suzuki; T Orii; K Hirayama
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

Review 2.  Genetic markers on chromosome 7.

Authors:  L C Tsui
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

Review 3.  Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.

Authors:  N Morichon-Delvallez; A L Delezoide; M Vekemans
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

4.  A case of partial 5q trisomy associated with partial 7q monosomy.

Authors:  S Hara; T Yamada; H Nakai; A Ohtani; K Mizuno
Journal:  Br J Ophthalmol       Date:  1986-08       Impact factor: 4.638

5.  Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma.

Authors:  L Martínez-Jacobo; C Córdova-Fletes; R Ortiz-López; F Rivas; C Saucedo-Carrasco; A Rojas-Martínez
Journal:  Mol Syndromol       Date:  2013-09

6.  A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.

Authors:  K Fagan; A Gill; R Henry; I Wilkinson; B Carey
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

  6 in total

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