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XXYY syndrome information


XXYY syndrome
Other names48,XXY Y Klinefelter syndrome (archaic); 48,XXYY variant of Klinefelter's syndrome (archaic)[1]
XXYY syndrome

XXYY syndrome is a sex chromosome anomaly in which males have 2 extra chromosomes, one X and one Y chromosome. Human cells usually contain two sex chromosomes, one from the mother and one from the father. Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). The appearance of at least one Y chromosome with a properly functioning SRY gene makes a male. Therefore, humans with XXYY are genotypically male. Males with XXYY syndrome have 48 chromosomes instead of the typical 46. This is why XXYY syndrome is sometimes written as 48, XXYY syndrome or 48, XXYY. It affects an estimated one in every 18,000–40,000 male births.[2]

  1. ^ "48,XXYY syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 13 January 2020. Retrieved 19 May 2019.
  2. ^ Cite error: The named reference pmid18481271 was invoked but never defined (see the help page).

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XXYY syndrome

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XXYY syndrome is a sex chromosome anomaly in which males have 2 extra chromosomes, one X and one Y chromosome. Human cells usually contain two sex chromosomes...

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XXXY syndrome

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others. Those with XXXY syndrome tend to display less externalizing and internalizing behaviors compared to those with 48,XXYY syndrome, which may have a positive...

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XXXXY syndrome

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problems are typical. One study looked at males that were diagnosed with 48,XXYY, 48,XXXY and 49,XXXXY. They found that males with 48,XXXY and 49,XXXXY function...

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XYY syndrome

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extra Y chromosome. Klinefelter syndrome XXYY syndrome XYYY syndrome XYYYY syndrome Turner syndrome Trisomy X "47,XYY syndrome". Genetics Home Reference. January...

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Down syndrome

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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...

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XXXYY syndrome

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gametes. XXXYY syndrome, by its nature, requires multiple steps of nondisjunction. Possible causes include fertilization of a normal egg by an XXYY sperm, fertilization...

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Turner syndrome

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Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing...

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List of syndromes

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XXXY syndrome XXYY syndrome XY gonadal dysgenesis XYY syndrome Yellow nail syndrome Yemenite deaf-blind hypopigmentation syndrome Yentl syndrome Yim–Ebbin...

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Mood swing

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known as seasonal mood swings. XXYY syndrome: XXYY syndrome is a rare type of sex chromosome aneuploidies (SCAs). XXYY syndrome contributes to abnormal neurodevelopment...

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Pentasomy X

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discovered, being preceded by Turner, Klinefelter, and trisomy X in 1959, XXYY syndrome in 1960, and XYY and tetrasomy X in 1961. By the time of Linden, Bender...

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Klinefelter syndrome

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Intersex Taurodontism Trisomy X Turner syndrome XYY syndrome XXYY syndrome "What are common symptoms of Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National...

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Clinodactyly

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Lange syndrome Orofaciodigital syndrome 1 13q deletion syndrome XXYY syndrome Silver–Russell syndrome Andersen-Tawil syndrome Noonan syndrome Ehlers–Danlos...

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Male reproductive system

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Turner's syndrome - a single X chromosome is present, Klinefelter's syndrome - two X chromosomes and a Y chromosome are present, XYY syndrome and XXYY syndrome...

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List of genetic disorders

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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...

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Birth defect

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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...

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Tetrasomy

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is present Pallister-Killian syndrome (tetrasomy 12p) Tetrasomy 9p Tetrasomy 18p Tetrasomy 21, a rare form of Down syndrome Tetrasomy X XXYY syndrome...

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Y chromosome

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only one chromosome) except in cases of aneuploidy such as XYY syndrome or XXYY syndrome. Traits that are inherited via the Y chromosome are called Y-linked...

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Miscarriage

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risk of miscarriage, including diabetes, endometriosis, polycystic ovary syndrome (PCOS), hypothyroidism, certain infectious diseases, and autoimmune diseases...

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Polysomy

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other X polysomies (48,XXXX, 48,XXXY, 48,XXYY) is more rare than 49,XXXXY. Polysomy Y (47,XYY; 48,XYYY; 48,XXYY; 49,XXYYY) occurs in 1 out of 975 males...

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X chromosome

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Klinefelter syndrome is in general in the normal range, although below average. When additional X and/or Y chromosomes are present in 48,XXXY, 48,XXYY, or 49...

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Miscarriage risks

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rejection Autoimmune disorder Coeliac disease Lupus Antiphospholipid antibody syndrome Anti-thyroid autoantibodies Placenta abnormality Previous miscarriage Eating...

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Nondisjunction

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chromosomes (48,XXXY; 48,XXYY; 49,XXXXY), mosaicism (46,XY/47,XXY), or structural chromosome abnormalities. The incidence of XYY syndrome is approximately 1...

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Miscarriage and mental disorders

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Monosomies Turner syndrome (45,X) Trisomies/tetrasomies, other karyotypes/mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY)...

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Aneuploidy

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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...

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The Focus Foundation

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X (Turner syndrome): · 47,XXX (Triple X syndrome; Trisomy X) · 47,XXY (Klinefelter syndrome) · 47,XYY (Jacob syndrome) · 48,XXXY · 48,XXYY · 48,XXXX ·...

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Tetrasomy X

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D'Epagnier C, Zeitler P (June 2011). "48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome". Acta Paediatrica. 100 (6): 851–860...

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