Literature DB >> 7154049

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

D N Abuelo, T Padre-Mendoza.   

Abstract

A patient with mental retardation and mild facial dysmorphism had a karyotype which was considered to be normal before the availability of chromosomal banding techniques. She had a history of a cat-like cry and severe feeding problems during infancy. At the age of 9, she was still found to have initial aphonia on trying to initiate sounds. Repeat chromosome analysis with G banding showed an interstitial deletion of the long arm of chromosome 7.

Entities:  

Mesh:

Year:  1982        PMID: 7154049      PMCID: PMC1048969          DOI: 10.1136/jmg.19.6.473

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


  7 in total

1.  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

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

Authors:  J M Klep-de Pater; J B Bijlsma; E M Bleeker-Wagemakers; H F de France; C M de Vries-Ekkers
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

3.  Interstitial deletion of the long arm of chromosome 7.

Authors:  L Serup
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

4.  [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

5.  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

Review 6.  The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Authors:  E Niebuhr
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132

7.  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 in total
  4 in total

Review 1.  Genetic markers on chromosome 7.

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

2.  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

3.  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

4.  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

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.