Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
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چکیده
منابع مشابه
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
BACKGROUND Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations have been found in roughly 5 to 7% of all cases. METHODS We performed a subtelomeric FISH analysis on 76 unrelated children with normal standard karyotype ...
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Background and Aims: Congenital heart defects (CHD) are the most common type of congenital disability. Copy number variations (CNVs) have been found as one of the genetic etiology of non-syndromic CHD, and researchers have detected several pathogenic CNVs in patients with cardiac defects. Materials and Methods: In the present study, 70 patients with familial (20 patients) and sporadic (50 pati...
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2009
ISSN: 1824-7288
DOI: 10.1186/1824-7288-35-9