• Thumbnail for Angelman syndrome
    Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe...
    37 KB (3,954 words) - 03:27, 4 May 2024
  • occurs in Angelman syndrome, except the defective chromosome 15 is from the mother, or two copies are from the father. Prader–Willi syndrome has no cure...
    38 KB (3,952 words) - 18:23, 11 May 2024
  • Thumbnail for Chromosome 15
    MIR9-3 host gene NIPA2: encoding protein Non-imprinted in Prader-Willi/Angelman syndrome region protein 2 NUSAP1: encoding protein Nucleolar and spindle associated...
    34 KB (3,031 words) - 03:36, 10 March 2024
  • deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf–Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome. The chromosomal...
    9 KB (1,128 words) - 00:28, 24 May 2023
  • Harry Angelman (13 August 1915 – 8 August 1996) was a British consultant paediatrician who identified and named Angelman syndrome. Angelman was born in...
    3 KB (231 words) - 13:58, 18 December 2023
  • Thumbnail for Turner syndrome
    Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a female is partially or completely missing an X chromosome (sex chromosome...
    77 KB (9,090 words) - 08:13, 28 April 2024
  • Thumbnail for Health among the Amish
    especially among the Old Order Amish. These disorders include dwarfism, Angelman syndrome, and various metabolic disorders, such as Tay-Sachs disease, as well...
    25 KB (2,563 words) - 12:15, 26 January 2024
  • Thumbnail for Pitt–Hopkins syndrome
    PTHS is symptomatically similar to Angelman syndrome, Rett syndrome and Mowat–Wilson syndrome. Angelman syndrome most closely resembles PTHS. Both have...
    14 KB (1,449 words) - 18:44, 8 May 2024
  • Thumbnail for Topotecan
    under way for Neuroblastoma, Brainstem glioma, Ewing's sarcoma and Angelman's syndrome. In addition, topotecan is experimentally treating Non-small cell...
    16 KB (1,512 words) - 18:28, 26 February 2024
  • Thumbnail for Down syndrome
    Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
    144 KB (14,436 words) - 20:15, 12 May 2024