Citation
Tartaglia, Nicole, et al. "48,XXYY, 48,XXXY and 49,XXXXY Syndromes: Not Just Variants of Klinefelter Syndrome." Acta Paediatrica (Oslo, Norway : 1992), vol. 100, no. 6, 2011, pp. 851-60.
Tartaglia N, Ayari N, Howell S, et al. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr. 2011;100(6):851-60.
Tartaglia, N., Ayari, N., Howell, S., D'Epagnier, C., & Zeitler, P. (2011). 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatrica (Oslo, Norway : 1992), 100(6), 851-60. https://doi.org/10.1111/j.1651-2227.2011.02235.x
Tartaglia N, et al. 48,XXYY, 48,XXXY and 49,XXXXY Syndromes: Not Just Variants of Klinefelter Syndrome. Acta Paediatr. 2011;100(6):851-60. PubMed PMID: 21342258.
TY - JOUR
T1 - 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
AU - Tartaglia,Nicole,
AU - Ayari,Natalie,
AU - Howell,Susan,
AU - D'Epagnier,Cheryl,
AU - Zeitler,Philip,
Y1 - 2011/04/08/
PY - 2011/2/24/entrez
PY - 2011/2/24/pubmed
PY - 2011/8/10/medline
SP - 851
EP - 60
JF - Acta paediatrica (Oslo, Norway : 1992)
JO - Acta Paediatr
VL - 100
IS - 6
N2 - UNLABELLED: Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features. While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and require strong treatment plans. Future research should focus on genotype-phenotype relationships and the development of evidence-based treatments. CONCLUSION: The more complex physical, medical and psychological phenotypes of 48,XXYY, 48,XXXY and 49,XXXXY syndromes make distinction from 47,XXY important; however, all of these conditions share features of hypergonadotropic hypogonadism and the need for increased awareness, biomedical research and the development of evidence-based treatments.
SN - 1651-2227
UR - https://www.unboundmedicine.com/medline/citation/21342258/48XXYY_48XXXY_and_49XXXXY_syndromes:_not_just_variants_of_Klinefelter_syndrome_
L2 - https://doi.org/10.1111/j.1651-2227.2011.02235.x
DB - PRIME
DP - Unbound Medicine
ER -