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LG Shaffer… - Seminars in Fetal and Neonatal Medicine, 2011 - Elsevier
... Down syndrome is the most common disorder caused by a chromosome abnormality, affecting
approximately one ... tool to confirm the clinical suspicion of a particular syndrome due to a ... the
discovery of new syndromes; the clinical characterization of these new disorders has led ...
Cited by 1 - Related articles - All 3 versions
CM Freitag - Expert Opinion on Medical Diagnostics, 2011 - informahealthcare.com
... single gene disorders, are phenylketonuria (PKU) and Smith–Lemli–Opitz (SLO) syndrome caused
by mutations in 7 ... Small studies in particular reported a high diagnostic yield, which might be due
to highly ... Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR. ...
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[PDF] from cnrs.frP Guicheney, NF Clarke, S Maugenre… - 2011 - peer.ccsd.cnrs.fr
... occupies on chromosome 22q12.3 (647 kb), due to the presence of very large introns enriched ...
that involve duplication or deletion of large regions of DNA due to non-allelic homologous ... TE;
for Nervous and Mental Disorders (20A-13) and Research on Psychiatric and ...
A Bojesen… - Acta Paediatrica, 2011 - Wiley Online Library
... Diabetes Mellitus 17 5.8 (3.4-9.3) 7 1.64 (0.66-4.07) Mental disorders 14 3.7 (2.0-6.2) 17 1.45
(0.81-2.55) ... Due to too few informative strata, confidence intervals are omitted. ... airway disease
or type 2 diabetes), by testosterone treatment, avoidance of smoking and ...
Cited by 1 - Related articles - All 3 versions
M Schmid… - Fetal MRI, 2011 - Springer
... Examples of genetic disorders due to loss of chromosome material are the Cri du Chat syndrome,
which is caused by a deletion on the short arm of chromosome 5 (5p-) and the Wolf ... Both genetic
disorders are very rare and associated with severe mental and physi- cal ...
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