Multiplex ligation‐dependent probe amplification (MLPA) is a commonly used technique for
determining relative DNA sequence dosage (or copy number) in a complex DNA sample …

Anomalies of chromosome number and structure are considered to be the most frequent
cause of unexplained, non-syndromic developmental delay and mental retardation …

Our understanding of the causes of mental retardation is benefiting greatly from whole‐
genome scans to detect submicroscopic pathogenic copy number variants (CNVs) that are …

D'Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Désilets V, Nizard S, Michaud JL, Lemyre
E. Whole‐genome array CGH identifies pathogenic copy number variations in fetuses with …

Microdeletion and microduplication genetic syndromes are known to be a significant cause
of developmental delay and dysmorphology. Utilizing high‐resolution chromosome analysis …

Subtelomeric imbalances are identified in∼ 5% of patients with idiopathic mental retardation
(MR) and multiple congenital anomalies (MCA). Because of this high incidence, screening …

Abstract Background Commercial MLPA kits (MRC-Holland) are available for detecting
imbalance at the subtelomere regions of chromosomes; each kit consists of one probe for …

Purpose: Genetic abnormalities of the gene encoding α1 subunit of the sodium channel
(SCN1A), which can be detected by direct sequencing, are present in more than 60% of …

Partial duplications of the long arm of chromosome 3, dup (3q), are a rare but well‐
described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of …

Monozygotic twin brothers with a subtelomeric 6q deletion presented with mental
retardation, microcephaly, seizures, an enlarged cisterna magna, dimpling at elbows, a high …