메뉴 건너뛰기




Volumn 10, Issue 1-3, 2010, Pages 131-139

Chromosomal anomalies and congenital heart disease in Mysore, South India

Author keywords

Birth defects; Congenital heart disease; Numerical and structural chromosomal anomalies; Syndromes

Indexed keywords

ARTICLE; CHROMOSOME 9; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME VARIANT; CONGENITAL HEART DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION; HUMAN; INDIA; NUMERICAL CHROMOSOME ABERRATION; PATHOGENESIS; STRUCTURAL CHROMOSOME ABERRATION;

EID: 77953180413     PISSN: 09723757     EISSN: None     Source Type: Journal    
DOI: 10.1080/09723757.2010.11886096     Document Type: Article
Times cited : (9)

References (47)
  • 3
    • 0037438672 scopus 로고    scopus 로고
    • Mosaicism in a Patient with Down syndrome Reveals Post-Fertilization Formation of a Robertsonian Translocation and Isochromosome
    • Bandyopadhyay R, McCaskill C, Knox-Du Bois C, Zhou Y, Berend SA, Bijlsma E, Shaffer LG 2003. Mosaicism in a Patient with Down syndrome Reveals Post-Fertilization Formation of a Robertsonian Translocation and Isochromosome. Am J Med Genet A, 116: 159-163.
    • (2003) Am J Med Genet A , vol.116 , pp. 159-163
    • Bandyopadhyay, R.1    McCaskill, C.2    Knox-Du, B.C.3    Zhou, Y.4    Berend, S.A.5    Bijlsma, E.6    Shaffer, L.G.7
  • 4
    • 0035341261 scopus 로고    scopus 로고
    • Axenfeld-Rieger anomaly, hypertelorism, clinodactyly and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8)
    • Baruch AC, Erickson RP 2001. Axenfeld-Rieger anomaly, hypertelorism, clinodactyly and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8). Am J Med Genet, 100(3):187-190.
    • (2001) Am J Med Genet , vol.100 , Issue.3 , pp. 187-190
    • Baruch, A.C.1    Erickson, R.P.2
  • 5
    • 0011505853 scopus 로고    scopus 로고
    • From congenital heart disease
    • In: RE Behrman, RM Kliegman, HB Jenson (Eds.), 16th Edition. Philadelphia: Harcourt Asia Pvt. Ltd
    • Behrman RE, Kliegman RM, Jenson HB 2000. From Congenital heart disease. In: RE Behrman, RM Kliegman, HB Jenson (Eds.): Nelson Textbook of Pediatrics. 16th Edition. Philadelphia: Harcourt Asia Pvt. Ltd., pp. 1362-1363.
    • (2000) Nelson Textbook of Pediatrics , pp. 1362-1363
    • Behrman, R.E.1    Kliegman, R.M.2    Jenson, H.B.3
  • 9
    • 11344287214 scopus 로고    scopus 로고
    • Trisomy of 8q22.3 approximately q23- qter following an unbalanced1;8 translocation in a boy with multiple anomalies
    • Ergun MA, Balci S, Konac E, Kan D, Menevse S, Bartsch O 2004. Trisomy of 8q22.3 approximately q23- qter following an unbalanced1;8 translocation in a boy with multiple anomalies. Turk J Pediatr, 46(4): 348-347.
    • (2004) Turk J Pediatr , vol.46 , Issue.4 , pp. 348-347
    • Ergun, M.A.1    Balci, S.2    Konac, E.3    Kan, D.4    Menevse, S.5    Bartsch, O.6
  • 10
    • 0024476864 scopus 로고
    • Congenital cardiovascular malformations associated with chromosome abnormalities: An epidemiologic study
    • Ferencz C, Neill CA, Boughman JA, Rubin JD, Brenner JI, Perry LW 1989. Congenital cardiovascular malformations associated with chromosome abnormalities: An epidemiologic study. J Pediatr, 114(1): 79-86.
    • (1989) J Pediatr , vol.114 , Issue.1 , pp. 79-86
    • Ferencz, C.1    Neill, C.A.2    Boughman, J.A.3    Rubin, J.D.4    Brenner, J.I.5    Perry, L.W.6
  • 12
  • 13
    • 0033611737 scopus 로고    scopus 로고
    • Syndromes and malformations associated with congenital heart disease in a population- based study
    • Grech V, Gatt M 1999. Syndromes and malformations associated with congenital heart disease in a population- based study. Int J Cardiol, 28; 68(2):151-156.
    • (1999) Int J Cardiol, 28 , vol.68 , Issue.2 , pp. 151-156
    • Grech, V.1    Gatt, M.2
  • 19
    • 32044438746 scopus 로고    scopus 로고
    • Maternal age and chromosomal profile in 160 DS cases- Experience of tertiary genetic center from India
    • Kothare S, Shetty N, Dave U 2002. Maternal age and chromosomal profile in 160 DS cases- Experience of tertiary genetic center from India. Int J Hum Genet, 2(1): 49-53.
    • (2002) Int J Hum Genet , vol.2 , Issue.1 , pp. 49-53
    • Kothare, S.1    Shetty, N.2    Dave, U.3
  • 20
    • 25744460727 scopus 로고
    • 1992. Pericentric inversion and recombinant aneusomy and other associated chromosomal aberrations: Random or non-random
    • Krishna DS, Al-Awadi SA, Farag TI 1992. Pericentric inversion and recombinant aneusomy and other associated chromosomal aberrations: random or non-random. Am J Hum Genet A, 51(4): 291 (1146).
    • (1146) Am J Hum Genet A , vol.51 , Issue.4 , pp. 291
    • Krishna, D.S.1    Al-Awadi, S.A.2    Farag, T.I.3
  • 21
    • 0032886040 scopus 로고    scopus 로고
    • Cytogenetic findings in 250 schizophrenics: Evidence confirming an excess of the chromosomen aneuploidies and pericentric inversion of chromosome 9
    • Kunugi H, Lee KB, Nanko S 1999. Cytogenetic findings in 250 schizophrenics: evidence confirming an excess of the chromosomen aneuploidies and pericentric inversion of chromosome 9. Schizophr Res, 40: 43-47.
    • (1999) Schizophr Res , vol.40 , pp. 43-47
    • Kunugi, H.1    Lee, K.B.2    Nanko, S.3
  • 22
    • 32044452864 scopus 로고    scopus 로고
    • Influence of advanced age of maternal grandmothers on Down syndrome
    • Malini SS, Ramachandra NB 2006. Influence of advanced age of maternal grandmothers on Down syndrome. BMC Med Genet, 7: 4.
    • (2006) BMC Med Genet , vol.7 , pp. 4
    • Malini, S.S.1    Ramachandra, N.B.2
  • 23
    • 17844374099 scopus 로고    scopus 로고
    • Tetrasomy 9p mosaicism associated with a normal phenotype
    • McAuliffe F, Winsor EJ, Chitayat D 2005. Tetrasomy 9p mosaicism associated with a normal phenotype. Fetal Diagn Ther, 20(3): 219-222.
    • (2005) Fetal Diagn Ther , vol.20 , Issue.3 , pp. 219-222
    • McAuliffe, F.1    Winsor, E.J.2    Chitayat, D.3
  • 24
    • 0347072532 scopus 로고    scopus 로고
    • Chromosomal aberrations in children with suspected genetic disorders. Eastern
    • Mokhtar MM 1997. Chromosomal aberrations in children with suspected genetic disorders. Eastern Mediterranean Health Journal, 3(1): 114-122.
    • (1997) Mediterranean Health Journal , vol.3 , Issue.1 , pp. 114-122
    • Mokhtar, M.M.1
  • 25
    • 0019528842 scopus 로고
    • Case histories of neonates with congenitalheart disease
    • Naganuma M, Tsunemoto M, Naito T 1981. Case histories of neonates with congenitalheart disease. Jpn Circ J, 45(2): 215-220.
    • (1981) Jpn Circ J , vol.45 , Issue.2 , pp. 215-220
    • Naganuma, M.1    Tsunemoto, M.2    Naito, T.3
  • 27
    • 0016811861 scopus 로고
    • Incidence of chromosome aberrations among 11,148 newborn children
    • Nielsen J, Sillesen I 1975. Incidence of chromosome aberrations among 11,148 newborn children. Hum Genet, 30: 1-12.
    • (1975) Hum Genet , vol.30 , pp. 1-12
    • Nielsen, J.1    Sillesen, I.2
  • 28
    • 0018093188 scopus 로고
    • Association of congenital heart disease with syndromes or other defects
    • Noonan JA 1978. Association of congenital heart disease with syndromes or other defects. Pediatr Clin North Am, 25: 797-816.
    • (1978) Pediatr Clin North Am , vol.25 , pp. 797-816
    • Noonan, J.A.1
  • 31
    • 0041629067 scopus 로고    scopus 로고
    • Prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46xx der 21 t(21q;22q) with pericentric inversion of chromosome 9
    • Parmar RC, Sira P 2003. Prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46xx der 21 t(21q;22q) with pericentric inversion of chromosome 9. J Postgrad Med, 49: 154-156.
    • (2003) J Postgrad Med , vol.49 , pp. 154-156
    • Parmar, R.C.1    Sira, P.2
  • 32
    • 31144449214 scopus 로고    scopus 로고
    • Interchange trisomy 22 in a live born resulting from 3:1 segregation in a t(15;22)(p12;q13) carrier mother
    • Patel ZM, Madon P 2004. Interchange trisomy 22 in a live born resulting from 3:1 segregation in a t(15;22)(p12;q13) carrier mother. Ind J Pediatr, 71: 1-3.
    • (2004) Ind J Pediatr , vol.71 , pp. 1-3
    • Patel, Z.M.1    Madon, P.2
  • 33
    • 0028855774 scopus 로고
    • Towards a molecular understanding of congenital heart disease
    • Payne M, Johnson MC, Grant JW, Strauss AW 1995. Towards a molecular understanding of congenital heart disease. Circulation, 91: 494-504.
    • (1995) Circulation , vol.91 , pp. 494-504
    • Payne, M.1    Johnson, M.C.2    Grant, J.W.3    Strauss, A.W.4
  • 34
    • 0036550531 scopus 로고    scopus 로고
    • Genetics and Cardiac Anomalies: The Heart of the Matter
    • Prasad C, Chudley AE 2002. Genetics and Cardiac Anomalies: the Heart of the Matter. Ind J Pediatr, 69(4): 321-332.
    • (2002) Ind J Pediatr , vol.69 , Issue.4 , pp. 321-332
    • Prasad, C.1    Chudley, A.E.2
  • 35
    • 18244367901 scopus 로고    scopus 로고
    • An unusual reciprocal translocation detected by subtelomeric FISH: Interstitial and not terminal
    • Riegel M, Baumer A, Suss J, Schinzel A 2005. An unusual reciprocal translocation detected by subtelomeric FISH: interstitial and not terminal. Am J Med Genet A, 135(1): 86-90.
    • (2005) Am J Med Genet A , vol.135 , Issue.1 , pp. 86-90
    • Riegel, M.1    Baumer, A.2    Suss, J.3    Schinzel, A.4
  • 36
    • 0025062739 scopus 로고
    • Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: A report of 9 cases and literature review
    • Roskes EJ, Boughman JA, Schwartz S, Cohen MM 1990. Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: a report of 9 cases and literature review. Clin Genet, 38(3): 198-210.
    • (1990) Clin Genet , vol.38 , Issue.3 , pp. 198-210
    • Roskes, E.J.1    Boughman, J.A.2    Schwartz, S.3    Cohen, M.M.4
  • 38
    • 0028020923 scopus 로고
    • Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation
    • Smith SA, Martin KE, Dodd KL, Young ID 1994. Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation. Clin Dysmorphol, 3(4): 287-291.
    • (1994) Clin Dysmorphol , vol.3 , Issue.4 , pp. 287-291
    • Smith, S.A.1    Martin, K.E.2    Dodd, K.L.3    Young, I.D.4
  • 44
    • 0031947644 scopus 로고    scopus 로고
    • Study of Down syndrome in 238,942 consecutive births
    • Stoll C, Alembik Y, Dott B, Roth MP 1998. Study of Down syndrome in 238,942 consecutive births. Ann Genet, 41: 44-51.
    • (1998) Ann Genet , vol.41 , pp. 44-51
    • Stoll, C.1    Alembik, Y.2    Dott, B.3    Roth, M.P.4
  • 45
    • 81555211593 scopus 로고    scopus 로고
    • Epidemiology of Congenital Heart Disease among Hospitalised Patients
    • Tank S, Malik S, Joshi S 2004. Epidemiology of Congenital Heart Disease among Hospitalised Patients. Bombay Hospital J, 46(2): 10.
    • (2004) Bombay Hospital J , vol.46 , Issue.2 , pp. 10
    • Tank, S.1    Malik, S.2    Joshi, S.3
  • 46
    • 0029268807 scopus 로고
    • Pericentric inversion 9-incidence and clinical significance
    • Teo SH, Tan M, Knight L, Ng I 1995. Pericentric inversion 9-incidence and clinical significance. Ann Acad Med Singapore, 24: 302-304.
    • (1995) Ann Acad Med Singapore , vol.24 , pp. 302-304
    • Teo, S.H.1    Tan, M.2    Knight, L.3    Ng, I.4
  • 47
    • 0025732491 scopus 로고
    • Congenital heart disease in Down's syndrome: Two year prospective early screening study
    • Tubman TR, Shields MD, Craig BG, Mulholland HC, Nevin NC 1991. Congenital heart disease in Down's syndrome: two year prospective early screening study. BMJ, 302: 1425-1427.
    • (1991) BMJ , vol.302 , pp. 1425-1427
    • Tubman, T.R.1    Shields, M.D.2    Craig, B.G.3    Mulholland, H.C.4    Nevin, N.C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.