High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation
Author:
Publisher
Elsevier BV
Subject
Clinical Biochemistry,General Medicine
Reference20 articles.
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2. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies;Baker;Am. J. Hum. Genet.,2002
3. Del 1p36 syndrome: a newly emerging clinical entity;Battaglia;Brain Dev.,2005
4. A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities;Cockwell;Hum. Genet.,2003
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1. Multiplex ligation dependent probe amplification - A useful, fast and cost-effective method for identification of small supernumerary marker chromosome in children with developmental delay and congenital heart defect;Revista Romana de Medicina de Laborator;2018-10-01
2. Retrospective karyotype study in mentally retarded patients;Revista da Associação Médica Brasileira;2016-06
3. Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations;Journal of Applied Genetics;2015-06-12
4. Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients;American Journal of Medical Genetics Part A;2012-03-09
5. "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements;Molecular Cytogenetics;2012-01-19
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