49,XXXXY Sendromlu Bir Çocukta Konjenital Kalp Hastalığı
49,XXXXY sendromu, 46,XY’ye ekstra üç X kromozomu eklenmesi ile karakterize nadir görülen cinsiyet kromozom anöploidi hastalığıdır. Klasik bulguları mental retardasyon, hipogonadizm, radioulnar sinostozis triadı olarak tanımlanmıştır. 49,XXXXY sendromunda patent duktus arteriozus, atriyal septal defekt, ventrikuler septal defekt, pulmoner stenoz, Fallot tetralojisi gibi konjenital kalp defektleri bildirilmiştir. Yenidoğan döneminde düşük doğum ağırlığı, kısa boy, dismorfik kraniyofasiyal bulgular ve hipoplastik erkek genitalya ile tanısını koyduğumuz ve 4 aylık iken kalp yetersizliği kliniği ile kabul edildiğinde ciddi pulmoner hipertansiyonu ve orta büyüklükte patent duktus artriyozusu saptanarak, duktusu transkateter Amplatzer Duktal Okluder I ile kapattığımız olguyu sunuyoruz. Bildiğimiz kadarıyla bu olgu patent duktus artiyozusu transkateter kapatılan ilk 49,XXXXY sendromudur
Congenital Heart Disease in an Infant with 49,XXXXY Syndrome
49,XXXXY syndrome which is characterized with the addition of three extra X chromosomes to 46,XY is the rarest sex chromosome aneuploidy syndrome. Its classical findings were defined as a triad of mental retardation, hypogonadism and radioulnar synostosis. In 49,XXXXY syndrome, congenital heart defects like patent ductus arteriosus, atrial septal defect, ventricular septal defect, pulmonary stenosis, Fallot’s tetralogy have been reported. We present a case diagnosed in the newborn stage with low birth weight, short stature, dysmorphic craniofacial findings and hypoplastic male genitalia who was found to have severe pulmonary hypertension and medium patent ductus arteriosus when admitted at 4 months of age with heart failure and who underwent transcathater ductus closure with Amplatzer Duct Occluder I. To our knowledge, our case is the first reported 49,XXXXY syndrome with patent ductus arteriosus closed with the transcathater route
___
- 1. Kleczkowska A, Fryns JP, Van den Berghe H. X-chromosome polysomy in the male. The Leuven experience 1966-1987. Hum Genet 1988;80:16-22.
- 2. Fraccaro M, Kaijser K, Lindsten J. A child with 49 chromosomes. Lancet 1960;2:899-902.
- 3. Simşek PÖ, Ütine GE, Alikaşifoğlu A, Alanay Y, Boduroğlu K, Kandemir N. Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes. Turk J Pediatr 2009;51:294-7.
- 4. Tartaglia N, Ayari N, Howell S, D’Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klienfenter syndrome. Acta Paediatr 2011;100:851- 60.
- 5. Peet J, Weaver DD, Vance GH. 49,XXXXY: a distinct phenotype. Three new cases and review. J Med Genet 1998;35:420-4.
- 6. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter’s syndrome. Lancet 2004;364:273-83.
- 7. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuoploidies. Orphonet J Rare Dis 2006;1:42.
- 8. Karsh RB. Congenital heart disease in 49,XXXXY syndrome. Pediatrics 1975;56:462-4.
- 9. Guzel AI, Demirhan O, Pazarbasi O, Yuksel B. Parenteral origin and cell stage errors in X-chromosome polysomy 49,XXXXY. Balkan J Med Genet 2009;12:45-50.
- 10. Ng SF, Boo NY, Wu LL, Shuib S. A rare case of ambiguous genitelia. Singapore Med J 2007;48:858-61.
- 11. Hoffman TL, Vossough A, Ficicioglu C, Visootsak J. Brain magnetic resonance imaging finding in 49,XXXXY Syndrome. Pediatr Neurol 2008;38:450-3.
- 12. Kim HJ, Kim D, Shin JM, Chung HK, Lee G. 49,XXXXY syndrome with diabetes mellitus. Horm Res 2006;65:14-7.
- 13. Hou JW. 49,XXXXY syndrome. Chang Gung Med J 2004;27:551- 4.
- 14. Sezgin I, Ruhi HI. Chromosome disorders and genetic counseling. Türkiye Klinikleri J Pediatr Sci 2005;1:36-41.