Spectral Karyotyping (SKY) (1–7) and Comparative Genomic Hybidization (CGH) (8– 11) are complementary fluorescent molecular cytogenetic techniques that have revolutionized the detection of chromosomal abnormalities. SKY permits the simultaneous visualization of all human or mouse chromosomes in a different color, facilitating the detection of chromosomal translocations and rearrangements (Figur...

BACKGROUND Male infertility caused by a maturation arrest of spermatogenesis is a condition with an abrupt stop in spermatogenesis, mostly at the level of primary spermatocytes. The etiology remains largely unknown. METHODS We focused on patients with a complete arrest at the spermatocyte level (n = 9) and used array comparative genomic hybridization to screen for deletions or duplications th...

A 23-year-old man had epilepsy, mental retardation, and a stereotyped movement (figure 1 video1), which was exacerbated by emotion. No abnormality detected in the EEG during this movement. Array comparative genomic hybridization showed Xq28 duplication: arr[GRCh37]Xq28(153032004_153406233)x2 2).

AIM To identify cryptic subtelomeric rearrangement, a possible cause of idiopathic mental retardation by means of multiprobe telomere fluorescent in situ hybridization (T-FISH). METHODS Hundred patients (median age 3.0 years) with mental retardation and dysmorphic features were screened using specific T-FISH probes. Multiplex ligation-dependent probe amplification and comparative genomic hybr...

Array comparative genomic hybridization (aCGH) technology is commonly used to estimate genome-wide copy-number variation and to evaluate associations between copy number and disease. Although aCGH technology is well developed and there are numerous algorithms available for estimating copy number, little attention has been paid to the important issue of the statistical experimental design. Herei...

A current challenge in biology is the characterization of genetic mutations that occur as response to a particular disease. Development of array comparative genomic hybridization (aCGH) technology has been a very important step in genomic mutation analysis, indeed, it enables copy number measurement in hundreds of thousands of genomic points (called markers or probes). Despite the high resoluti...