A 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter variant with Morbid Obesity

Yonsei Medical Journal

Volumn 54, Issue 2, 2013, Pages 538-540

  Kim, Youngsook ^a   Kim, Won Jin ^a   Huh, Ji Hye ^a   Lee, Sujin ^a   Kim, Daham ^a   Hong, Jae Won ^a   Lee, Eun Jig ^a  

^a Yonsei University College of Medicine   (South Korea)

Author keywords

Karyotype; Klinefelter syndrome; Morbid obesity

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; TESTOSTERONE; TESTOSTERONE ENANTATE;

ADULT; ARTICLE; CASE REPORT; DIABETES MELLITUS; GENOTYPE; GLUCOSE TOLERANCE TEST; HUMAN; HYPOGONADISM; KLINEFELTER SYNDROME; MALE; MORBID OBESITY;

ADULT; DIABETES COMPLICATIONS; HUMANS; KARYOTYPING; KLINEFELTER SYNDROME; MALE; OBESITY, MORBID; PHENOTYPE;

EID: 84873272057     PISSN: 05135796     EISSN: None     Source Type: Journal    
DOI: 10.3349/ymj.2013.54.2.538     Document Type: Article

References (6)

1. Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 2007;4:192-204.
2. Saad F, Gooren LJ. The role of testosterone in the etiology and treatment of obesity, the metabolic syndrome, and diabetes mellitus type 2. J Obes 2011;2011.
3. Gabbett MT, Peters GB, Carmichael JM, Darmanian AP, Collins FA. Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region. Clin Genet 2008;73:353-9.
4. Pramyothin P, Pithukpakorn M, Arakaki RF. A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization. Endocrine 2010;37:379-82.
5. Thomas NS, Hassold TJ. Aberrant recombination and the origin of Klinefelter syndrome. Hum Reprod Update 2003;9:309-17.
6. Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 48, XXYY, 48, XXXY and 49, XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr 2011;100:851-60.