Abnormal reproductive development in males has been linked to environmental
contaminant exposure in a wide variety of vertebrates. These include humans, rodent …

Recent years have witnessed rapid advances in molecular cytogenetics and its impact in
studying mental retardation (MR). We review new molecular cytogenetic methods, including …

A technique used to amplify the number of copies of a specific region of DNA, the
polymerase chain reaction (PCR) is at the forefront of the dramatic development of …

A technique used to amplify the number of copies of a specific region of DNA, the
polymerase chain reaction (PCR) is at the forefront of the dramatic development of …

Disorders of sex development (DSD) represent a spectrum of uncommon but very complex
disorders with medical, psychosexual, and family implications for those affected by them …

Background In situ detection is traditionally performed with long labeled probes often
followed by a signal amplification step to enhance the labeling. Whilst short probes have …

Low copy repeats (LCRs) located in 22q11. 2, especially LCR-B, are susceptible to
rearrangements associated with several relatively common constitutional disorders. These …

Disorders of sex development (DSDs) comprise a spectrum of disorders in which
chromosomal, genetic, gonadal, hormonal, or anatomic aspects of sex are atypical …

Decades before the recent advances in molecular biology and the knowledge of the
complete nucleotide sequence of several genomes, cytogenetic analysis provided the first …

Whole-exome sequencing was used to successfully identify genetic causes of DSD in 35%
of a cohort of 46, XY patients who had not previously received a genetic diagnosis. A novel …