Literature DB >> 9457504

Interstitial deletion 11q. Case report and review of the literature.

J M De Pater1, P F Ippel, J B Bijlsma, O Van Nieuwenhuizen.   

Abstract

A mildly retarded male with a unique interstitial deletion 11 (pter-->q22.3::q23.2-->qter) is described. To the best of our knowledge this patient is the first case with this specific type of deletion. The clinical features and cytogenetic findings of this patient are compared with those of previously reported cases with interstitial deletions 11q and patients with terminal deletions involving band 11q24.1 (leading to the so-called Jacobsen syndrome).

Entities:  

Mesh:

Year:  1997        PMID: 9457504

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  3 in total

1.  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

2.  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 3.  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
  3 in total

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