Down-Klinefelter syndrome (48,XXY,+21) in a Child with Congenital Heart Disease: Case Report and Literature Review

Congenital heart disease (CHD) is extremely rarely reported in 48, XYY, +21 karyotype. Herein, we reported one case of 48,XYY,+21 karyotype with CHD and reviewed the available literature. The phenotypic characteristics of the 4-month-old child showed the presence of features typical of mongoloid sla...

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Published inInternal Medicine Vol. 51; no. 11; pp. 1371 - 1374
Main Authors Shen, Zheng, Jiang, Ke Wen, Zou, Chao Chun, Shang, Shi Qiang
Format Journal Article
LanguageEnglish
Published Japan The Japanese Society of Internal Medicine 01.01.2012
Subjects
48,XXY,+21
congenital heart disease
Down Syndrome - complications
Down Syndrome - diagnosis
Down Syndrome - genetics
Down-Klinefelter syndrome
Echocardiography
Facies
Heart Defects, Congenital - complications
Heart Defects, Congenital - diagnosis
Heart Defects, Congenital - genetics
Humans
Infant
Karyotyping
Klinefelter Syndrome - complications
Klinefelter Syndrome - diagnosis
Klinefelter Syndrome - genetics
Male
Phenotype
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Abstract Congenital heart disease (CHD) is extremely rarely reported in 48, XYY, +21 karyotype. Herein, we reported one case of 48,XYY,+21 karyotype with CHD and reviewed the available literature. The phenotypic characteristics of the 4-month-old child showed the presence of features typical of mongoloid slant. X-ray detection showed the form of heart was corpulent and the bilateral mediastinum was broad. Doppler echocardiogram detection showed atrial septal and ventricular septal defects with patent ductus arteriosus, pulmonary hypertension and mild tricuspid regurgitation. Including this case, 63 cases of 48, XYY, +21 chromosome pattern have been reported. However, only 9 cases have CHD.
AbstractList Congenital heart disease (CHD) is extremely rarely reported in 48, XYY, +21 karyotype. Herein, we reported one case of 48,XYY,+21 karyotype with CHD and reviewed the available literature. The phenotypic characteristics of the 4-month-old child showed the presence of features typical of mongoloid slant. X-ray detection showed the form of heart was corpulent and the bilateral mediastinum was broad. Doppler echocardiogram detection showed atrial septal and ventricular septal defects with patent ductus arteriosus, pulmonary hypertension and mild tricuspid regurgitation. Including this case, 63 cases of 48, XYY, +21 chromosome pattern have been reported. However, only 9 cases have CHD.Congenital heart disease (CHD) is extremely rarely reported in 48, XYY, +21 karyotype. Herein, we reported one case of 48,XYY,+21 karyotype with CHD and reviewed the available literature. The phenotypic characteristics of the 4-month-old child showed the presence of features typical of mongoloid slant. X-ray detection showed the form of heart was corpulent and the bilateral mediastinum was broad. Doppler echocardiogram detection showed atrial septal and ventricular septal defects with patent ductus arteriosus, pulmonary hypertension and mild tricuspid regurgitation. Including this case, 63 cases of 48, XYY, +21 chromosome pattern have been reported. However, only 9 cases have CHD.
Congenital heart disease (CHD) is extremely rarely reported in 48, XYY, +21 karyotype. Herein, we reported one case of 48,XYY,+21 karyotype with CHD and reviewed the available literature. The phenotypic characteristics of the 4-month-old child showed the presence of features typical of mongoloid slant. X-ray detection showed the form of heart was corpulent and the bilateral mediastinum was broad. Doppler echocardiogram detection showed atrial septal and ventricular septal defects with patent ductus arteriosus, pulmonary hypertension and mild tricuspid regurgitation. Including this case, 63 cases of 48, XYY, +21 chromosome pattern have been reported. However, only 9 cases have CHD.
Author Jiang, Ke Wen
Shen, Zheng
Shang, Shi Qiang
Zou, Chao Chun
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  organization: Department of Pediatrics, the Children's Hospital of Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases, China
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  organization: Department of Pediatrics, the Children's Hospital of Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases, China
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  fullname: Zou, Chao Chun
  organization: Department of Pediatrics, the Children's Hospital of Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases, China
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  fullname: Shang, Shi Qiang
  organization: Department of Pediatrics, the Children's Hospital of Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases, China
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14. Pierpont ME, Basson CT, Benson DW Jr, et al. American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young., Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 115: 3015-3038, 2007.
1. Iliopoulos D, Poultsides G, Peristeri V, Kouri G, Andreou A, Voyiatzis N. Double trisomy(48, XXY, +21) in monozygotic twins: case report and review of the literature. Ann Genet 47: 95-98, 2004.
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5. Hustinx TW, Eberle P, Geerts SJ, Ten B, Woltring LM. Mongoloid twins with 48 chromosomes (AA plus A21XXY). Ann Hum Genet 25: 111-115, 1961.
4. Ford CE, Jones KW, Miller OJ, et al. The chromosomes in a patient showing both mongolism and the Klinefelter syndrome. Lancet 1: 709-710, 1959.
11. Gerretsen MF, Peelen W, Rammeloo LA, Koolbergen DR, Hruda J. Double aortic arch with double aneuploidy -rare anomaly in combined Down and Klinefelter syndrome. Eur J Pediatr 168: 1479-1481, 2009.
2. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 1: 42, 2006.
6. De Grouchy J, Emerit I, DE Gennes JL, Vernant P. Klinefelter's syndrome in a 6-year-old trisomy-21 boy. Presse Med 73: 1209-1212, 1965.
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References_xml – reference: 9. Efinski D, Duma H, Apostolovski B, Sofijanov N, Ristevski B, Darkovski S. Klinefelter's and Down's syndrome in an adolescent with abnormal EEG. Clin Genet 5: 81-85, 1974.
– reference: 10. Akbas E, Soylemez F, Savasoglu K, Halliogluand O, Balci S. A male case with double aneuploidy (48, XXY, +21). Genet Couns 19: 59-63, 2008.
– reference: 14. Pierpont ME, Basson CT, Benson DW Jr, et al. American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young., Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 115: 3015-3038, 2007.
– reference: 11. Gerretsen MF, Peelen W, Rammeloo LA, Koolbergen DR, Hruda J. Double aortic arch with double aneuploidy -rare anomaly in combined Down and Klinefelter syndrome. Eur J Pediatr 168: 1479-1481, 2009.
– reference: 1. Iliopoulos D, Poultsides G, Peristeri V, Kouri G, Andreou A, Voyiatzis N. Double trisomy(48, XXY, +21) in monozygotic twins: case report and review of the literature. Ann Genet 47: 95-98, 2004.
– reference: 2. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 1: 42, 2006.
– reference: 7. Hecht F, Nievaard JE, Duncanson N, et al. Double aneuploidy: the frequency of XXY in males with Down's syndrome. Am J Hum Genet 21: 352-359, 1969.
– reference: 15. Freeman SB, Taft LF, Dooley KJ, et al. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet 80: 213-217, 1998.
– reference: 13. Rosenthal A. Cardiovascular malformations in Klinefelter's syndrome: report of three cases. J Pediatr 80: 471-473, 1972.
– reference: 3. Kovaleva NV, Mutton DE. Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes. Am J Med Genet A 134A: 24-32, 2005.
– reference: 5. Hustinx TW, Eberle P, Geerts SJ, Ten B, Woltring LM. Mongoloid twins with 48 chromosomes (AA plus A21XXY). Ann Hum Genet 25: 111-115, 1961.
– reference: 4. Ford CE, Jones KW, Miller OJ, et al. The chromosomes in a patient showing both mongolism and the Klinefelter syndrome. Lancet 1: 709-710, 1959.
– reference: 8. Erdtmann B, de Freitas AA, de Souza RP, Salzano FM. Klinefelter's syndrome and G trisomy. J Med Genet 8: 364-368, 1971.
– reference: 6. De Grouchy J, Emerit I, DE Gennes JL, Vernant P. Klinefelter's syndrome in a 6-year-old trisomy-21 boy. Presse Med 73: 1209-1212, 1965.
– reference: 12. Jeanty C, Turner C. Prenatal diagnosis of double aneuploidy, 48,XXY,+21, and Review of the Literature. J Ultrasound Med 28: 673-681, 2009.
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Snippet Congenital heart disease (CHD) is extremely rarely reported in 48, XYY, +21 karyotype. Herein, we reported one case of 48,XYY,+21 karyotype with CHD and...
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SubjectTerms 48,XXY,+21
congenital heart disease
Down Syndrome - complications
Down Syndrome - diagnosis
Down Syndrome - genetics
Down-Klinefelter syndrome
Echocardiography
Facies
Heart Defects, Congenital - complications
Heart Defects, Congenital - diagnosis
Heart Defects, Congenital - genetics
Humans
Infant
Karyotyping
Klinefelter Syndrome - complications
Klinefelter Syndrome - diagnosis
Klinefelter Syndrome - genetics
Male
Phenotype
Title Down-Klinefelter syndrome (48,XXY,+21) in a Child with Congenital Heart Disease: Case Report and Literature Review
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