• Thumbnail for XXXXY syndrome
    49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males. This syndrome...
    12 KB (1,169 words) - 17:50, 1 August 2024
  • family. Sex chromosome anomalies Klinefelter syndrome 48,XXXX 48,XXYY 49,XXXXY syndrome "XXXY syndrome". The Genetic and Rare Diseases Information Center...
    15 KB (1,918 words) - 17:50, 1 August 2024
  • Thumbnail for Pentasomy X
    condition may be as frequent as 1 in 85,000, as observed in the related 49,XXXXY syndrome. Fewer than thirty cases of the disorder have been reported in the medical...
    29 KB (3,393 words) - 17:51, 1 August 2024
  • Thumbnail for Down syndrome
    Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder...
    148 KB (14,803 words) - 02:05, 25 September 2024
  • Thumbnail for XXXYY syndrome
    aneuploidies, such as tetrasomy X, pentasomy X, XYYY syndrome, XYYYY syndrome, and XXXXY syndrome, are survivable with relatively mild phenotypes due to...
    19 KB (2,263 words) - 22:16, 29 June 2024
  • Thumbnail for Turner syndrome
    Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which the patient's cells have only one X chromosome or are partially missing...
    77 KB (9,067 words) - 03:01, 12 September 2024
  • Thumbnail for Klinefelter syndrome
    chromosomes present in the karyotype. For example, patients with 49 chromosomes (XXXXY) have a lower IQ and more severe physical manifestations than those with...
    46 KB (4,682 words) - 07:57, 26 August 2024
  • Thumbnail for Intersex
    Zeitler P (June 2011). "48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome". Acta Paediatrica. 100 (6): 851–860. doi:10.1111/j...
    156 KB (14,658 words) - 17:19, 22 September 2024
  • Thumbnail for Tetrasomy X
    Tetrasomy X (redirect from 48 xxxx syndrome)
    Zeitler P (June 2011). "48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome". Acta Paediatrica. 100 (6): 851–860. doi:10.1111/j...
    40 KB (4,818 words) - 17:50, 1 August 2024
  • RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...
    42 KB (983 words) - 10:34, 21 August 2024
  • Thumbnail for Birth defect
    as limb anomalies, syndromes involving multiple systems, and Down syndrome. Recent studies have concluded that 5-9% of Down syndrome cases are due to paternal...
    96 KB (10,011 words) - 05:08, 3 September 2024
  • microdeletion syndrome 49,XXXXY 4D syndrome 8p23.1 duplication syndrome 9q34 deletion syndrome Aagenaes syndrome Aarskog–Scott syndrome Aase syndrome Abandoned...
    42 KB (4,068 words) - 22:25, 3 September 2024
  • syndrome): · 47,XXX (Triple X syndrome; Trisomy X) · 47,XXY (Klinefelter syndrome) · 47,XYY (Jacob syndrome) · 48,XXXY · 48,XXYY · 48,XXXX · 49,XXXXY...
    18 KB (2,580 words) - 04:22, 24 August 2024
  • Thumbnail for XXYY syndrome
    "Behavioral phenotype of sex chromosome aneuploidies: 48, XXYY, 48, XXXY, and 49,XXXXY". American Journal of Medical Genetics Part A. 143A (11): 1198–1203. doi:10...
    13 KB (1,478 words) - 19:19, 7 August 2024
  • as Klinefelter syndrome 47, XYY, also known as Jacobs syndrome 48, XXXX, also known as tetrasomy X 48, XXXY 48, XXYY 48, XYYY 49, XXXXY 49, XYYYY 49, XXXXX...
    991 bytes (171 words) - 00:48, 7 August 2024
  • Thumbnail for Miscarriage
    risk of miscarriage, including diabetes, endometriosis, polycystic ovary syndrome (PCOS), hypothyroidism, certain infectious diseases, and autoimmune diseases...
    112 KB (11,005 words) - 02:52, 9 September 2024
  • Thumbnail for Polysomy
    disorders are abnormalities of sex chromosomes, but polysomies rarely occur. 49,XXXXY chromosome polysomy occurs every 1 in 85,000 newborn males. The incidence...
    39 KB (4,281 words) - 21:02, 17 August 2024
  • Thumbnail for Y chromosome
    karyotype" concept is therefore inaccurate. There are also XXXY syndrome and XXXXY syndrome. The following Y-chromosome-linked diseases are rare, but notable...
    81 KB (8,153 words) - 17:25, 22 September 2024
  • Thumbnail for Nondisjunction
    (48,XXXY; 48,XXYY; 49,XXXXY), mosaicism (46,XY/47,XXY), or structural chromosome abnormalities. The incidence of XYY syndrome is approximately 1 in 800–1000...
    25 KB (2,857 words) - 18:11, 18 May 2024
  • Fryns-Aftimos syndrome (also known as Baraitser-Winter syndrome 1, or BWS1) is a rare chromosomal condition and is associated with pachygyria, severe...
    14 KB (1,341 words) - 22:41, 10 April 2024
  • XXXYY syndrome (49,XXXYY) XXXXY syndrome (49,XXXXY) Trisomy X (47,XXX) Tetrasomy X (48,XXXX) Pentasomy X (49,XXXXX) XYY syndrome (47,XYY) XYYY syndrome (48...
    11 KB (1,083 words) - 15:45, 17 September 2024
  • rare (NIH) 47, XXY syndrome 47, XYY syndrome 47, XXX syndrome 48, XXXX syndrome 48, XXYY syndrome 49, XXXXX syndrome 49, XXXXY syndrome 5 alpha reductase...
    3 KB (307 words) - 03:36, 11 December 2023
  • Thumbnail for Disorders of sex development
    100,000 men affected by variant 49,XXXXY (Three extra X). While some men may have no issues related to the syndrome, some may experience gynecomastia,...
    72 KB (7,749 words) - 01:41, 15 August 2024
  • rejection Autoimmune disorder Coeliac disease Lupus Antiphospholipid antibody syndrome Anti-thyroid autoantibodies Placenta abnormality Previous miscarriage Eating...
    21 KB (1,923 words) - 15:37, 21 June 2024
  • Thumbnail for Intellectual disability
    Tetrasomy X and pentasomy X syndrome affect a small number of girls worldwide, while boys may be affected by 49, XXXXY, or 49, XYYYY. 47, XYY is not...
    91 KB (10,195 words) - 20:28, 28 September 2024
  • Thumbnail for X chromosome
    49,XXXXY, developmental delays and cognitive difficulties can be more severe and mild intellectual disability may be present. Klinefelter syndrome can...
    42 KB (3,902 words) - 05:50, 15 August 2024
  • Thumbnail for Aneuploidy
    found in Down syndrome, affecting 1 in 800 births. Trisomy 18 (Edwards syndrome) affects 1 in 6,000 births, and trisomy 13 (Patau syndrome) affects 1 in...
    36 KB (3,424 words) - 07:27, 4 June 2024
  • Epignathus (category Rare syndromes)
    There have been case reports noting chromosomal irregularities such as a 49,XXXXY karyotype, duplication of 1q and 19p, and ring X chromosome mosaicism. However...
    22 KB (2,871 words) - 07:53, 19 September 2024
  • Thumbnail for Meiosis
    XXXXY, etc. Turner syndrome – lacking of one X chromosome in females – i.e. X0 Triple X syndrome – an extra X chromosome in females Jacobs syndrome –...
    64 KB (7,478 words) - 23:27, 22 August 2024
  • Thumbnail for C. Stuart Houston
    Zaleski, W. A.; Houston, C. S.; Pozsonyi, J.; Ying, K. L. (1966). "The XXXXY Chromosome Anomaly: Report of Three New Cases and Review of 30 Cases from...
    18 KB (1,899 words) - 23:48, 9 September 2024