Literature DB >> 537020

Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement.

K B Nielsen, F Egede, I Mouridsen, J Mohr.   

Abstract

A family with an insertional type of chromosome rearrangement involving chromosomes 7 and 13 is reported. An interstitial deletion of a segment of chromosome 7 (7q32 leads to 34) had been inserted into the long arm of chromosome 13 at breakpoint q32. Segregation of this chromosome rearrangement gave rise to three subjects who were monosomic for the involved segment of chromosome 7. The karyotypes were: 46,XX, or XY,der(7)ins(13;7) (q32;q32q34). All three subjects were mentally retarded and had minor dysmorphic features. The Kidd, Colton, and Kell blood group systems were investigated, but were not informative.

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Year:  1979        PMID： 537020      PMCID： PMC1012594          DOI： 10.1136/jmg.16.6.461

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


  16 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.  Colton blood groups: indication of linkage with the Kidd (Jk) system as support for assignment to chromosome 7.

Authors:  J Mohr; H Eiberg
Journal:  Clin Genet       Date:  1977-05       Impact factor: 4.438

5.  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

6.  Monosomy-7 and the Colton blood-groups.

Authors:  A De Ca Chapelle; P Vuopio; R Sanger; P Teesdale
Journal:  Lancet       Date:  1975-10-25       Impact factor: 79.321

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

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

8.  [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

9.  Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter leads to q2200::q3200 leads to qter).

Authors:  P Franceschini; M C Silengo; G F Davi; M A Santoro; G Prandi; C Fabris
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132

10.  Interstitial deletion of chromosome 7 detected in three unrelated patients.

Authors:  M Seabright; G M Lewis
Journal:  Hum Genet       Date:  1978-06-09       Impact factor: 4.132
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  10 in total

1.  Absence of a lateral rectus muscle associated with duplication of the chromosome segment 7q32----q34.

Authors:  C G Keith; G C Webb; J G Rogers
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

Review 2.  Genetic markers on chromosome 7.

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

3.  Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).

Authors:  E D'Alessandro; C Ligas; M L Lo Re; M P Marcanio; T Gentile; G Del Porto
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

4.  The contribution of 7q33 copy number variations for intellectual disability.

Authors:  Fátima Lopes; Fátima Torres; Sally Ann Lynch; Arminda Jorge; Susana Sousa; João Silva; Paula Rendeiro; Purificação Tavares; Ana Maria Fortuna; Patrícia Maciel
Journal:  Neurogenetics       Date:  2017-12-19       Impact factor: 2.660

5.  Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.

Authors:  M Moller; D García-Cruz; H Rivera; J Sánchez-Corona; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

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

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

7.  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

8.  An interstitial deletion of chromosome 7(q35).

Authors:  K Fagan; C Kennedy; L Roddick; A Colley
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

9.  Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome.

Authors:  Kristen Dilzell; Diana Darcy; John Sum; Robert Wallerstein
Journal:  Case Rep Genet       Date:  2015-05-03

10.  7q36 deletion and 9p22 duplication: effects of a double imbalance.

Authors:  Karla de Oliveira Pelegrino; Sofia Sugayama; Ana Lúcia Catelani; Karina Lezirovitz; Fernando Kok; Maria de Lourdes Chauffaille
Journal:  Mol Cytogenet       Date:  2013-01-15       Impact factor: 2.009
  10 in total

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