Jacob's syndrome: Difference between revisions
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Jacob's syndrome (Double Y syndrome, 47 XYY syndrome, XYY syndrome) is a rare chromosomal disorder caused by the presence of an extra Y chromosome. Normally, males have 46 chromosomes including one X and one Y chromosome. Males with XYY syndrome have 47 chromosomes, two of which are Y chromosomes. | Jacob's syndrome (Double Y syndrome, 47 XYY syndrome, XYY syndrome) is a rare chromosomal disorder caused by the presence of an extra Y chromosome. Normally, males have 46 chromosomes including one X and one Y chromosome. Males with XYY syndrome have 47 chromosomes, two of which are Y chromosomes. | ||
Characterized clinically by male tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. | |||
{{Genetic}} | {{Genetic}} | ||
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{{External Links}} | {{External Links}} | ||
* [https://ghr.nlm.nih.gov/condition/47xyy-syndrome# Genetic Home Reference] | |||
* [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=8 OrphanNet] | |||
* [https://rarediseases.org/rare-diseases/xyy-syndrome/ rare diseases - xyy-syndrome] | * [https://rarediseases.org/rare-diseases/xyy-syndrome/ rare diseases - xyy-syndrome] | ||
Revision as of 11:37, 8 May 2019
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ICD-11 |
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LD52.1 Male with double or multiple Y
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Introduction
Jacob's syndrome (Double Y syndrome, 47 XYY syndrome, XYY syndrome) is a rare chromosomal disorder caused by the presence of an extra Y chromosome. Normally, males have 46 chromosomes including one X and one Y chromosome. Males with XYY syndrome have 47 chromosomes, two of which are Y chromosomes.
Characterized clinically by male tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.
Some Recent Findings
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More recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Jacob's syndrome | XYY syndrome |
References
- ↑ Berglund A, Viuff MH, Skakkebæk A, Chang S, Stochholm K & Gravholt CH. (2019). Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study. Orphanet J Rare Dis , 14, 16. PMID: 30642344 DOI.
- ↑ Bloy L, Ku M, Edgar JC, Miller JS, Blaskey L, Ross J & Roberts TPL. (2019). Auditory evoked response delays in children with 47,XYY syndrome. Neuroreport , 30, 504-509. PMID: 30896674 DOI.
- ↑ Sciurano RB, Rahn IM, González Arias B, Rey Valzacchi G, Benavente R & Solari AJ. (2019). Selective advantage of euploid spermatocytes I in an azoospermic 47,XYY man with gonadal mosaicism. Hum. Reprod. , 34, 568-573. PMID: 30597018 DOI.
Reviews
Kim IW, Khadilkar AC, Ko EY & Sabanegh ES. (2013). 47,XYY Syndrome and Male Infertility. Rev Urol , 15, 188-96. PMID: 24659916
Rives N, Siméon N, Milazzo JP, Barthélémy C & Macé B. (2003). Meiotic segregation of sex chromosomes in mosaic and non-mosaic XYY males: case reports and review of the literature. Int. J. Androl. , 26, 242-9. PMID: 12846800
Murakami J, Baba K, Minagawa N, Kono S, Yajima M & Iwamoto T. (1997). [A case of 47XYY syndrome presenting with male infertility]. Hinyokika Kiyo , 43, 433-6. PMID: 9250495
Oguma N, Shigeta C & Kamada N. (1996). XYY male and hematologic malignancy. Cancer Genet. Cytogenet. , 90, 179-81. PMID: 8830731
Articles
Rau RE, Carroll AJ, Heerema NA, Arland L, Carroll WL, Winick NJ, Raetz EA, Loh ML, Yang W, Relling MV, Dai Y, Devidas M & Hunger SP. (2017). Klinefelter syndrome and 47,XYY syndrome in children with B cell acute lymphoblastic leukaemia. Br. J. Haematol. , 179, 843-846. PMID: 27434379 DOI.
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Cite this page: Hill, M.A. (2024, June 26) Embryology Jacob's syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Jacob%27s_syndrome
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G