Literature DB >> 4009645

Interstitial deletion of the long arm of chromosome 11.

J M Klep-de Pater, H F de France, J B Bijlsma.   

Abstract

A girl with an interstitial deletion of the long arm of chromosome 11 is described. The patient was mildly mentally retarded and showed some facial dysmorphic features, including hypertelorism, ptosis, and cleft palate.

Entities:  

Mesh：

Year:  1985        PMID： 4009645      PMCID： PMC1049429          DOI： 10.1136/jmg.22.3.224

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


  4 in total

1.  An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.

Authors:  P Jacobsen; M Hauge; K Henningsen; N Hobolth; M Mikkelsen; J Philip
Journal:  Hum Hered       Date:  1973       Impact factor: 0.444

2.  11q-syndrome: review and report of two cases.

Authors:  E McPherson; L Meissner
Journal:  Birth Defects Orig Artic Ser       Date:  1982

3.  Fragile site long arm chromosome 16.

Authors:  K Sørensen; J Nielsen; V Holm; J Haahr
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

4.  Localization of human myeloid-associated surface antigen detected by a panel of 20 monoclonal antibodies to the q12-qter region of chromosome 11.

Authors:  A G van Kessel; P Tetteroo; T van Agthoven; R Paulussen; J van Dongen; A Hagemeijer; A von dem Borne
Journal:  J Immunol       Date:  1984-09       Impact factor: 5.422
  4 in total
  4 in total

Review 1.  Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

Authors:  E K Pivnick; G V Velagaleti; R S Wilroy; M E Smith; S R Rose; R E Tipton; A T Tharapel
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

2.  Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report.

Authors:  Danijela Krgovic; Natasa Marcun Varda; Andreja Zagorac; Nadja Kokalj-Vokac
Journal:  Mol Cytogenet       Date:  2011-08-22       Impact factor: 2.009

3.  Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male.

Authors:  Ioannis Papoulidis; Vassilis Paspaliaris; Elisavet Siomou; Sandro Orru; Roberta Murru; Stavros Sifakis; Petros Nikolaidis; Antonios Garas; Sotirios Sotiriou; Loretta Thomaidis; Emmanouil Manolakos
Journal:  Mol Cytogenet       Date:  2015-09-17       Impact factor: 2.009

Review 4.  Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review.

Authors:  Renata Nacinovich; Nicoletta Villa; Serena Redaelli; Fiorenza Broggi; Monica Bomba; Patrizia Stoppa; Agnese Scatigno; Angelo Selicorni; Leda Dalprà; Francesca Neri
Journal:  BMC Res Notes       Date:  2014-04-17
  4 in total

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