NIPS V1.0

3 Somatic Chromosome Abnormalities

  • Down Syndrome
  • Edwards Syndrome
  • Patau Syndrome

 

4 Sex Chromosome Abnormalities

  • Turner Syndrome
  • Klinefelter Syndrome
  • Triple X Syndrome XYY Syndrome
NIPS V2.0

22 Somatic Chromosome Abnormalities

  • Down Syndrome
  • Edwards Syndrome
  • Patau Syndrome

 

4 Sex Chromosome Abnormalities

  • Turner Syndrome
  • Klinefelter Syndrome
  • Triple X Syndrome XYY Syndrome

 

5 Microdeletions Syndromes

  • Prader-Willi Syndrome (70%)
  • Angelman Syndrome
  • DiGeorge Syndrome
  • 1p36 Deletion Syndrome
  • Cri-du-chat Syndrome
NIPS V3.0

22 Somatic Chromosome Abnormalities

  • Down Syndrome
  • Edwards Syndrome
  • Patau Syndrome

 

4 Sex Chromosome Abnormalities

  • Turner Syndrome
  • Klinefelter Syndrome
  • Triple X Syndrome XYY Syndrome

 

20 Skeletal Dysplasia Mutations

  • Crouzon Syndrome
  • Pfeiffer Syndrome
  • Apert Syndrome
  • Achondroplasia
  • Hypochondroplasia
  • Thanatophoric Dysplasia Type 1
  • Thanatophoric Dysplasia Type 2
  • Muenke Syndrome

 

20 Microdeletions Syndromes

  • Prader-Willi Syndrome (70%)
  • Angelman Syndrome (70%)
  • DiGeorge Syndrome
  • 1p36 Deletion Syndrome
  • Williams Syndrome
  • Smith-Magenis Syndrome
  • Koolen-de Vries Syndrome
  • 18q Deletion Syndrome
  • Wolf-Hirschhorn Syndrome
  • Alagille Syndrome
  • Jacobsen Syndrome
  • Hereditary Neuropathy with Liability to Pressure Palsy
  • Rubinstein-Taybi Syndrome
  • WAGR Syndrome
  • Potocki-Shaffer Syndrome
  • Miller Dieker Syndrome
  • 1 q21.1 Deletion Syndrome
  • Kleefstra Syndrome
  • Phelan-Mcdermid Syndrome
  • Cri-du-chat Syndrome
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