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'''49,XXYYY syndrome''' is a [[intersex]] variation in which a [[CTM]] individual has two extra Y chromosomes and one extra X chromosome. It is a very rare variation amongst [[AMAB|DMAB]] individuals, and it has no estimated rarity. |
'''49,XXYYY syndrome''' is a [[intersex]] variation in which a [[CTM]] individual has two extra Y chromosomes and one extra X chromosome. It is a very rare variation amongst [[AMAB|DMAB]] individuals, and it has no estimated rarity. |
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Those with this variation tend to have facial dysmorphism, mild microcephaly, limitation of supination at the elbows, delayed bone age, and moderate intellectual disability |
Those with this variation tend to have facial dysmorphism, mild microcephaly, limitation of supination at the elbows, delayed bone age, and moderate intellectual disability<ref>[https://pubmed.ncbi.nlm.nih.gov/8330452/]</ref> This variation is often considered a subset or a related variation to [[Klinefelter Syndrome|kilnefelter syndrome]]. |
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It is important to note that not all the symptoms listed in this page are guaranteed to occur in someone with this variation, as someone may only experience one or several of these symptoms, yet still hold the variation. |
It is important to note that not all the symptoms listed in this page are guaranteed to occur in someone with this variation, as someone may only experience one or several of these symptoms, yet still hold the variation. |
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Revision as of 20:32, 20 June 2021
Not to be confused with XXYY Syndrome, XXXYY Syndrome, XYYYY Syndrome.
49,XXYYY syndrome is a intersex variation in which a CTM individual has two extra Y chromosomes and one extra X chromosome. It is a very rare variation amongst DMAB individuals, and it has no estimated rarity.
Those with this variation tend to have facial dysmorphism, mild microcephaly, limitation of supination at the elbows, delayed bone age, and moderate intellectual disability[1] This variation is often considered a subset or a related variation to kilnefelter syndrome.
It is important to note that not all the symptoms listed in this page are guaranteed to occur in someone with this variation, as someone may only experience one or several of these symptoms, yet still hold the variation.
Studies
Medical professionals looked into tissues sampled for chromosome studies of external ambiguous genitalia and abdominal gonads, consisting of a left ovotestis and a right primitive testis, and found that they contained cells 46,XX, 47,XXY and 49,XXYYY sex chromosomes.[2] This implies that those with ambiguous genitallia and/or ovotestes may - in some cases - hold the genetic materiel to bare, grow, or develop a child with XXYYY Syndrome (if they can ovulate and/or produce sperm.)
History
This variation appears to have been discovered in 1967 or earlier,
Resources
https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1440-1754.1967.tb01693.x