
DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH
A CONGENITAL HEART DEFECT IN A NEONATE Shu X, Zou C, Shen Z* *Corresponding Author: Zheng Shen, M.D., The Children’s Hospital of Zhejiang University School of Medicine,
57 Zhugan Xiang, Hangzhou 310003, People’s Republic of China; Tel.: +86-13575743518; Fax: +86-571-
87033296; E-mail: shenzheng@tom.com page: 85
|
REFERENCES
1. Mégarbané A, Ravel A, Mircher C, Sturtz F, Grattau
Y, Rethoré MO, et al. The 50th anniversary
of the discovery of trisomy 21: the past, present,
and future of research and treatment of Down
syndrome. Genet Med. 2009; 11(9): 611-616.
2. Jacobs PA, Strong JA. A case of human intersexuality
having a possible XXY sex-determining
mechanism. Nature. 1959; 183(4547): 302-303.
3. Maiburg M, Repping S, Giltay J. The genetic
origin of Klinefelter syndrome and its effect
on spermatogenesis. Fertil Steril. 2012; 98(2):
253-260.
4. Kovaleva NV, Mutton DE. Epidemiology of
double aneuploidies involving chromosome 21
and the sex chromosomes. Am J Med Genet A.
2005; 134A(1): 24-32.
5. Ford CE, Jones KW, Miller OJ, Mittwoch
U, Penrose LS, Ridler M, et al. The chromosomes
in a patient showing both mongolism and
Klinefelter syndrome. Lancet. 1959; 1(7075):
709-710.
6. Hook EB, Cross PK, Schreinemachers DM.
Chromosomal abnormality rates at amniocentesis
and in live-born infants. JAMA. 1983;
249(15): 2034-2038.
7. 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.
2004; 47(1): 95-98.
8. Hecht F, Nievaard JE, Duncanson N, Miller JR,
Higgins JV, Kimberling WJ, et al. Double aneuploidy:
the frequency of XXY in males with
Down’s syndrome. Am J Hum Genet. 1969;
21(4): 352-359.
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. 1974; 5(2): 81-85.
10. Akbas E, Soylemez F, Savasoglu K, Halliogluand
O, Balci S. A male case with double aneuploidy
(48, XXY, +21). Genet Couns. 2008;
19(1): 59-63.
11. Biselli JM, Machado FB, Zampieri BL, Alves
da Silva AF, Goloni-Bertollo EM, Haddad R,
et al. Double aneuploidy (48,XXY,+21) of maternal
origin in a child born to a 13-year-old
mother: evaluation of the maternal folate metabolism.
Genet Couns. 2009; 20(3): 225-234.
12. Jeanty C, Turner C. Prenatal diagnosis of double
aneuploidy, 48, XXY,+21, and review of
the literature. J Ultrasound Med. 2009; 28(5):
673-681.
13. Shen Z, Zou CC, Shang SQ, Jiang KW. Down-
Klinefelter syndrome (48,XXY,+21) in a child with congenital heart disease: case report and
literature review. Intern Med. 2012; 51(11):
1371-1374.
14. Gerretsen MF, Peelen W, Rammeloo LA, Koolbergen
DR, Hruda J. Double aortic arch with
double aneuploidy – rare anomaly in combined
Down and Kline-felter syndrome. Eur J Pediatr.
2009;168(12): 1479-1481.
15. Pierpont ME, Basson CT, Benson DW Jr, Gelb
BD, Giglia TM, Goldmuntz E, 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. 2007;115(23): 3015-3038.
16. Greene AK, Kim S, Rogers GF, Fishman SJ, Olsen
BR, Mulliken JB. Risk of vascular anomalies
with Down syndrome. Pediatrics. 2008;
121(1): e135-e140.
|
|
|
|



 |
Number 27 VOL. 27 (2), 2024 |
Number 27 VOL. 27 (1), 2024 |
Number 26 Number 26 VOL. 26(2), 2023 All in one |
Number 26 VOL. 26(2), 2023 |
Number 26 VOL. 26, 2023 Supplement |
Number 26 VOL. 26(1), 2023 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
Number 21 VOL. 21, 2018 Supplement |
Number 20 VOL. 20 (2), 2017 |
Number 20 VOL. 20 (1), 2017 |
Number 19 VOL. 19 (2), 2016 |
Number 19 VOL. 19 (1), 2016 |
Number 18 VOL. 18 (2), 2015 |
Number 18 VOL. 18 (1), 2015 |
Number 17 VOL. 17 (2), 2014 |
Number 17 VOL. 17 (1), 2014 |
Number 16 VOL. 16 (2), 2013 |
Number 16 VOL. 16 (1), 2013 |
Number 15 VOL. 15 (2), 2012 |
Number 15 VOL. 15, 2012 Supplement |
Number 15 Vol. 15 (1), 2012 |
Number 14 14 - Vol. 14 (2), 2011 |
Number 14 The 9th Balkan Congress of Medical Genetics |
Number 14 14 - Vol. 14 (1), 2011 |
Number 13 Vol. 13 (2), 2010 |
Number 13 Vol.13 (1), 2010 |
Number 12 Vol.12 (2), 2009 |
Number 12 Vol.12 (1), 2009 |
Number 11 Vol.11 (2),2008 |
Number 11 Vol.11 (1),2008 |
Number 10 Vol.10 (2), 2007 |
Number 10 10 (1),2007 |
Number 9 1&2, 2006 |
Number 9 3&4, 2006 |
Number 8 1&2, 2005 |
Number 8 3&4, 2004 |
Number 7 1&2, 2004 |
Number 6 3&4, 2003 |
Number 6 1&2, 2003 |
Number 5 3&4, 2002 |
Number 5 1&2, 2002 |
Number 4 Vol.3 (4), 2000 |
Number 4 Vol.2 (4), 1999 |
Number 4 Vol.1 (4), 1998 |
Number 4 3&4, 2001 |
Number 4 1&2, 2001 |
Number 3 Vol.3 (3), 2000 |
Number 3 Vol.2 (3), 1999 |
Number 3 Vol.1 (3), 1998 |
Number 2 Vol.3(2), 2000 |
Number 2 Vol.1 (2), 1998 |
Number 2 Vol.2 (2), 1999 |
Number 1 Vol.3 (1), 2000 |
Number 1 Vol.2 (1), 1999 |
Number 1 Vol.1 (1), 1998 |
|
|