A 19-year-old man with XXXXY syndrome and prognathism
Specialty
Medical genetics
Usual onset
Prenatal
Duration
Lifelong
Causes
Cellular nondisjunction during meiosis
Diagnostic method
Karyotype
Frequency
1 in 85,000 to 100,000
49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males.[1][2][3] This syndrome is the result of maternal non-disjunction during both meiosis I and II.[4] It was first diagnosed in 1960 and was coined Fraccaro syndrome after the researcher.[2]
^Visootsak J, Graham JM (2006). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet J Rare Dis. 1: 42. doi:10.1186/1750-1172-1-42. PMC 1634840. PMID 17062147.
^ abFraccaro, M.; Kaijser, K.; Lindsten, J. (1960-10-22). "A child with 49 chromosomes". Lancet. 2 (7156): 899–902. doi:10.1016/s0140-6736(60)91963-2. ISSN 0140-6736. PMID 13701146.
49,XXXXYsyndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males. This syndrome...
more often in a particular family. Klinefelter syndrome 48,XXXX 48,XXYY 49,XXXXYsyndrome "XXXY syndrome". The Genetic and Rare Diseases Information Center...
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...
aneuploidies, such as tetrasomy X, pentasomy X, XYYY syndrome, XYYYY syndrome, and XXXXYsyndrome, are survivable with relatively mild phenotypes due to...
condition may be as frequent as 1 in 85,000, as observed in the related 49,XXXXYsyndrome. Fewer than thirty cases of the disorder have been reported in the medical...
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...
chromosomes present in the karyotype. For example, patients with 49 chromosomes (XXXXY) have a lower IQ and more severe physical manifestations than those with...
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...
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...
risk of miscarriage, including diabetes, endometriosis, polycystic ovary syndrome (PCOS), hypothyroidism, certain infectious diseases, and autoimmune diseases...
Zeitler P (June 2011). "48,XXYY, 48,XXXY and 49,XXXXYsyndromes: not just variants of Klinefelter syndrome". Acta Paediatrica. 100 (6): 851–860. doi:10.1111/j...
(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...
disorders are abnormalities of sex chromosomes, but polysomies rarely occur. 49,XXXXY chromosome polysomy occurs every 1 in 85,000 newborn males. The incidence...
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...
49,XXXXY, developmental delays and cognitive difficulties can be more severe and mild intellectual disability may be present. Klinefelter syndrome can...
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...
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 –...
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...
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