The frequency of uniparental disomy in Prader-Willi syndrome: implications for molecular diagnosis

Article Abstract:

Approximately one-fifth of patients with the genetic disorder Prader-Willi syndrome may inherit both copies of chromosome 15 from their mother. Individuals with this disorder are abnormal in appearance, and suffer from obesity, hormonal imbalances and mental retardation. Genetic analysis of chromosome 15 in 30 patients with Prader-Willi syndrome and their parents found that 18 patients (60%) inherited both copies of chromosome 15 from their mother. Individuals usually inherit one copy of each chromosome from each of their parents. Large molecular deletions in chromosome 15 (portions were missing) were present in eight patients (27%), and four (13%) inherited normal copies of chromosome 15 from both parents. Parents of patients who inherited both copies of chromosome 15 from their mother were significantly older than those of the other patients. Portions of chromosome 15 are missing or altered in some patients with Prader-Willi syndrome, but it appears normal in others.

Health aspects, Genetic aspects, Chromosome abnormalities, Prader-Willi syndrome

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Turner's syndrome

Article Abstract:

Turner's syndrome is a genetic disorder affecting females that results in a single X chromosome and 45 somatic chromosomes rather than 46. It is believed that many embryos with the disorder die before birth. Most cases are discovered prenatally by ultrasound imaging because the disorder causes characteristic birth defects. It affects the sex glands, the skeleton, the skull, the heart, the kidneys and can cause slow growth. Short stature is the most common feature. Many girls with Turner's syndrome can lead relatively normal lives.

Care and treatment, Turner syndrome

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