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{{Short description|Rare chromosomal disorder}} |
{{Short description|Rare chromosomal disorder}} |
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'''XYYYY syndrome''', also known as '''49,XYYYY''', is an exceptionally rare [[chromosomal disorder]] in which a male has three additional copies of the [[Y chromosome]]. Only seven non-[[Mosaic (genetics)|mosaic]] cases of the disorder have ever been recorded in the medical literature, as well as five mosaic cases, of which two had more [[48,XYYY]] than 49,XYYYY cells.<ref name="bmc">{{cite journal|title=Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature|journal=BMC Medical Genetics|volume=18|issue=9 |
'''XYYYY syndrome''', also known as '''49,XYYYY''', is an exceptionally rare [[chromosomal disorder]] in which a male has three additional copies of the [[Y chromosome]]. Only seven non-[[Mosaic (genetics)|mosaic]] cases of the disorder have ever been recorded in the medical literature, as well as five mosaic cases, of which two had more [[48,XYYY]] than 49,XYYYY cells.<ref name="bmc">{{cite journal|title=Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature|journal=BMC Medical Genetics|volume=18|issue=9|date=2017|vauthors=Demily C, Poisson A, Peyroux E, Gatellier V, Nicolas A, Rigard C, Schluth-Bolard C, Sanlaville D, Rossi M|page=9|doi=10.1186/s12881-017-0371-1|pmid=28137251|pmc=5282903|doi-access=free}}</ref> Due to the extreme rarity of the disorder, little is understood about it,<ref name="pediatrics">{{cite journal|title=Sex chromosome tetrasomy and pentasomy|journal=Pediatrics|volume=96|issue=4|pages=672–682|date=October 1995|vauthors=Linden MG, Bender BG, Robinson A|doi=10.1542/peds.96.4.672|pmid=7567329}}</ref> and the [[phenotype]] appears to be variable.<ref name="ajhg">{{cite journal|title=Y chromosomal polysomy: A unique case of 49,XYYYY in amniotic fluid cells|journal=American Journal of Medical Genetics|volume=118A|pages=184–186|date=12 December 2002|vauthors=Frey-Mahn G, Behrendt G, Geiger K, Sohn C, Schäfer D, Miny P|issue=2|doi=10.1002/ajmg.a.10051|pmid=12655500|s2cid=37103837}}</ref> |
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==Phenotype== |
==Phenotype== |
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XYYYY syndrome is associated with developmental and skeletal anomalies that are also observed in other sex chromosome [[Aneuploidy|aneuploidies]]. Findings associated with the [[karyotype]] include [[hypertelorism]] (wide-spaced eyes), [[low-set ears]], [[radioulnar synostosis]] (fusion of the long bones in the forearm), and [[clinodactyly]] (incurved pinky fingers).<ref name="pediatrics" /> [[Intellectual disability]] has been observed in all cases old enough to test<ref name="ajhg" /> and is in the mild to moderate range.<ref name="bmc" />{{NoteTag|While some writers suggest intellectual disability is moderate to severe,<ref name="orphanet">{{cite web|url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99330|title=49,XYYYY syndrome|work=Orphanet|access-date=3 May 2021}}</ref> this has not been recorded in any descriptions of the disorder.<ref name="bmc" />}} Though other Y-chromosome [[polysomy]] disorders are associated with tall stature,<ref name="emmd">{{cite encyclopedia|title=Y Polysomies, in Males|encyclopedia=Encyclopedia of Molecular Mechanisms of Disease|year=2009|vauthors=Bartholdi D, Schinzel A|editor-last=Lang|editor-first=Florian|publisher=Springer-Verlag|location=Berlin|doi=10.1007/978-3-540-29676-8_1908}}</ref> this does not appear to be true in XYYYY syndrome, with recorded heights ranging from the 10th to 97th percentile.<ref name="ajhg" /> [[Autism]] and [[attention-deficit hyperactivity disorder]] are both thought to be associated with the syndrome.<ref name="bmc" /> External genitalia are normal, but testicular insufficiency appears to develop during childhood and lead to adult [[azoospermia]].<ref name="pediatrics" /> |
XYYYY syndrome is associated with developmental and skeletal anomalies that are also observed in other sex chromosome [[Aneuploidy|aneuploidies]]. Findings associated with the [[karyotype]] include [[hypertelorism]] (wide-spaced eyes), [[low-set ears]], [[radioulnar synostosis]] (fusion of the long bones in the forearm), and [[clinodactyly]] (incurved pinky fingers).<ref name="pediatrics" /> [[Intellectual disability]] has been observed in all cases old enough to test<ref name="ajhg" /> and is in the mild to moderate range.<ref name="bmc" />{{NoteTag|While some writers suggest intellectual disability is moderate to severe,<ref name="orphanet">{{cite web|url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99330|title=49,XYYYY syndrome|work=Orphanet|access-date=3 May 2021}}</ref> this has not been recorded in any descriptions of the disorder.<ref name="bmc" />}} Though other Y-chromosome [[polysomy]] disorders are associated with tall stature,<ref name="emmd">{{cite encyclopedia|title=Y Polysomies, in Males|encyclopedia=Encyclopedia of Molecular Mechanisms of Disease|year=2009|vauthors=Bartholdi D, Schinzel A|pages=2265–2266|editor-last=Lang|editor-first=Florian|publisher=Springer-Verlag|location=Berlin|doi=10.1007/978-3-540-29676-8_1908|isbn=978-3-540-67136-7}}</ref> this does not appear to be true in XYYYY syndrome, with recorded heights ranging from the 10th to 97th percentile.<ref name="ajhg" /> [[Autism]] and [[attention-deficit hyperactivity disorder]] are both thought to be associated with the syndrome.<ref name="bmc" /> External genitalia are normal, but testicular insufficiency appears to develop during childhood and lead to adult [[azoospermia]].<ref name="pediatrics" /> |
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== History == |
== History == |
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Non-mosaic XYYYY syndrome was first recorded in 1981 in a 14-month-old boy, though a mosaic case with mixed 49,XYYYY and [[45,X0]] cells had been recorded in 1968.<ref name="cg">{{cite journal|title=49, XYYYY. A case report|journal=Clinical Genetics|volume=19|issue=2|pages=87–93|date=1981|vauthors=Sirota L, Zlotogota Y, Shabtai F, Halbrecht I, Elian E|doi=10.1111/j.1399-0004.1981.tb00676.x}}</ref> This case was followed up at the age of seven, providing the only known long-term follow-up of the disorder.<ref name="ajhg" /> Only two adults with XYYYY syndrome have been described.<ref name="bmc" /> |
Non-mosaic XYYYY syndrome was first recorded in 1981 in a 14-month-old boy, though a mosaic case with mixed 49,XYYYY and [[45,X0]] cells had been recorded in 1968.<ref name="cg">{{cite journal|title=49, XYYYY. A case report|journal=Clinical Genetics|volume=19|issue=2|pages=87–93|date=1981|vauthors=Sirota L, Zlotogota Y, Shabtai F, Halbrecht I, Elian E|doi=10.1111/j.1399-0004.1981.tb00676.x|pmid=7471512|s2cid=36727592}}</ref> This case was followed up at the age of seven, providing the only known long-term follow-up of the disorder.<ref name="ajhg" /> Only two adults with XYYYY syndrome have been described.<ref name="bmc" /> |
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==Prevalence== |
==Prevalence== |
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The disorder's prevalence is estimated to be below 1 in 1,000,000.<ref name="orphanet" /> |
The disorder's prevalence is estimated to be below 1 in 1,000,000.<ref name="orphanet" /> |
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Revision as of 00:37, 23 February 2022
XYYYY syndrome, also known as 49,XYYYY, is an exceptionally rare chromosomal disorder in which a male has three additional copies of the Y chromosome. Only seven non-mosaic cases of the disorder have ever been recorded in the medical literature, as well as five mosaic cases, of which two had more 48,XYYY than 49,XYYYY cells.[1] Due to the extreme rarity of the disorder, little is understood about it,[2] and the phenotype appears to be variable.[3]
Phenotype
XYYYY syndrome is associated with developmental and skeletal anomalies that are also observed in other sex chromosome aneuploidies. Findings associated with the karyotype include hypertelorism (wide-spaced eyes), low-set ears, radioulnar synostosis (fusion of the long bones in the forearm), and clinodactyly (incurved pinky fingers).[2] Intellectual disability has been observed in all cases old enough to test[3] and is in the mild to moderate range.[1][note 1] Though other Y-chromosome polysomy disorders are associated with tall stature,[5] this does not appear to be true in XYYYY syndrome, with recorded heights ranging from the 10th to 97th percentile.[3] Autism and attention-deficit hyperactivity disorder are both thought to be associated with the syndrome.[1] External genitalia are normal, but testicular insufficiency appears to develop during childhood and lead to adult azoospermia.[2]
History
Non-mosaic XYYYY syndrome was first recorded in 1981 in a 14-month-old boy, though a mosaic case with mixed 49,XYYYY and 45,X0 cells had been recorded in 1968.[6] This case was followed up at the age of seven, providing the only known long-term follow-up of the disorder.[3] Only two adults with XYYYY syndrome have been described.[1]
Prevalence
The disorder's prevalence is estimated to be below 1 in 1,000,000.[4]
See also
Notes
References
- ^ a b c d e Demily C, Poisson A, Peyroux E, Gatellier V, Nicolas A, Rigard C, Schluth-Bolard C, Sanlaville D, Rossi M (2017). "Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature". BMC Medical Genetics. 18 (9): 9. doi:10.1186/s12881-017-0371-1. PMC 5282903. PMID 28137251.
- ^ a b c Linden MG, Bender BG, Robinson A (October 1995). "Sex chromosome tetrasomy and pentasomy". Pediatrics. 96 (4): 672–682. doi:10.1542/peds.96.4.672. PMID 7567329.
- ^ a b c d Frey-Mahn G, Behrendt G, Geiger K, Sohn C, Schäfer D, Miny P (12 December 2002). "Y chromosomal polysomy: A unique case of 49,XYYYY in amniotic fluid cells". American Journal of Medical Genetics. 118A (2): 184–186. doi:10.1002/ajmg.a.10051. PMID 12655500. S2CID 37103837.
- ^ a b "49,XYYYY syndrome". Orphanet. Retrieved 3 May 2021.
- ^ Bartholdi D, Schinzel A (2009). "Y Polysomies, in Males". In Lang F (ed.). Encyclopedia of Molecular Mechanisms of Disease. Berlin: Springer-Verlag. pp. 2265–2266. doi:10.1007/978-3-540-29676-8_1908. ISBN 978-3-540-67136-7.
- ^ Sirota L, Zlotogota Y, Shabtai F, Halbrecht I, Elian E (1981). "49, XYYYY. A case report". Clinical Genetics. 19 (2): 87–93. doi:10.1111/j.1399-0004.1981.tb00676.x. PMID 7471512. S2CID 36727592.