Literature DB >> 458833

Two cases with different deletions of the long arm of chromosome 7.

J M Klep-de Pater, J B Bijlsma, E M Bleeker-Wagemakers, H F de France, C M de Vries-Ekkers.   

Abstract

Two mentally and physically retarded girls, one with an interstitial deletion 7 (pter leads to q21::q32 leads to qter), and the other with an interstitial deletion 7 (pter leads to q11::q22 leads to qter), are described. Their clinical features are compared with those of 11 earlier reported cases with a deletion 7q. The Hageman factor, the locus of which is assigned to the distal part of 7q, was in both cases within normal limits. The data available do not justify the delineation of a specific clinical syndrome.

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Year:  1979        PMID: 458833      PMCID: PMC1012742          DOI: 10.1136/jmg.16.2.151

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


  10 in total

1.  A partial long arm deletion of chromosome 7:46,XY,del(7)(q32).

Authors:  B G Kousseff; L Y Hsu; S Paciuc; K Hirschhorn
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318

2.  Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies.

Authors:  G Higginson; D D Weaver; R E Magenis; G H Prescott; C Haag; D J Hepburn
Journal:  Clin Genet       Date:  1976-11       Impact factor: 4.438

3.  7q deletion syndrome (7q32 leads to 7qter).

Authors:  E L Harris; R S Wappner; C G Palmer; B Hall; N Dinno; M R Seashore; W R Breg
Journal:  Clin Genet       Date:  1977-10       Impact factor: 4.438

4.  A simple method for R banding of human chromosomes, showing a pH-dependent connection between R and G bands.

Authors:  J Sehested
Journal:  Humangenetik       Date:  1974-01-22

5.  An improved banding technique exemplified in the karyotype analysis of two strains of rat.

Authors:  P H Gallimore; C R Richardson
Journal:  Chromosoma       Date:  1973       Impact factor: 4.316

6.  Deletion of the long arm of chromosome no. 7: tentative assignment of the Kidd (Jk) locus.

Authors:  M H Shokeir; K L Ying; P Pabello
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

7.  A case of?6p- chromosomal aberration.

Authors:  J De Grouchy; J Veslot; J Bonnette; M Roidot
Journal:  Am J Dis Child       Date:  1968-01

8.  Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7.

Authors:  B Biederman; P Bowen
Journal:  Hum Genet       Date:  1978-02-23       Impact factor: 4.132

9.  Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 band.

Authors:  J de Grouchy; C Turleau
Journal:  Humangenetik       Date:  1974

10.  [Interstitial deletion of the long arm of chromosome 7 in a female child with leprechaunism].

Authors:  N Ayraud; J Rovinski; J C Lambert; A Galiana
Journal:  Ann Genet       Date:  1976-12
  10 in total
  10 in total

1.  Regional assignment of 41 human DNA fragments on chromosome 7 by means of a somatic cell hybrid panel.

Authors:  A Jobs; D Klein-Bölting; A S Jandel; A Driesel; K Olek; K H Grzeschik
Journal:  Hum Genet       Date:  1990-01       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

3.  Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32).

Authors:  D N Abuelo; T Padre-Mendoza
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

Review 4.  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

5.  Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.

Authors:  C A Joyce; B Zorich; S J Pike; J C Barber; N R Dennis
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

6.  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

7.  Full trisomy 7 and Potter syndrome.

Authors:  E Yunis; E Ramírez; J G Uribe
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

8.  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

9.  Partial monosomy 7q syndrome due to distal interstitial deletion.

Authors:  R Stallard; R C Juberg
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

10.  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

  10 in total

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