메뉴 건너뛰기




Volumn 146, Issue 12, 2008, Pages 1575-1580

Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1

Author keywords

Chromosome 16; Congenital heart disease; Conotruncal heart defect; Contiguous gene syndrome; Malformation; Microdeletion

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 16Q; CHROMOSOME ANALYSIS; CHROMOSOME ARM; FACE MALFORMATION; FALLOT TETRALOGY; GENE DELETION; HUMAN; INTRAUTERINE GROWTH RETARDATION; MALE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PULMONARY ARTERY; PULMONARY VALVE ATRESIA;

EID: 44849093629     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32204     Document Type: Article
Times cited : (12)

References (31)
  • 4
    • 0031835542 scopus 로고    scopus 로고
    • Prenatal diagnosis of de novo interstitial 16q deletion in a fetus associated with sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bones
    • Chen CP, Chern SR, Lee CC, Chen LF, Chuang CY. 1998. Prenatal diagnosis of de novo interstitial 16q deletion in a fetus associated with sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bones. Prenat Diagn 18:490-495.
    • (1998) Prenat Diagn , vol.18 , pp. 490-495
    • Chen, C.P.1    Chern, S.R.2    Lee, C.C.3    Chen, L.F.4    Chuang, C.Y.5
  • 5
    • 0031920989 scopus 로고    scopus 로고
    • Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect
    • Chessa M, Butera G, Bonhoeffer P, Iserin L, Kachaner J, Lyonnet S, Munnich A, Sidi D, Bonnet D. 1998. Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect. Heart 79:186-190.
    • (1998) Heart , vol.79 , pp. 186-190
    • Chessa, M.1    Butera, G.2    Bonhoeffer, P.3    Iserin, L.4    Kachaner, J.5    Lyonnet, S.6    Munnich, A.7    Sidi, D.8    Bonnet, D.9
  • 8
    • 0026009080 scopus 로고
    • Interstitial deletion of 16(q13q22) in a newborn resulting from a paternal insertional translocation
    • Edelhoff S, Maier B, Trautmann U, Pfeiffer RA. 1991. Interstitial deletion of 16(q13q22) in a newborn resulting from a paternal insertional translocation. Ann Genet 34:85-89.
    • (1991) Ann Genet , vol.34 , pp. 85-89
    • Edelhoff, S.1    Maier, B.2    Trautmann, U.3    Pfeiffer, R.A.4
  • 9
    • 0021269786 scopus 로고
    • Identical twins with deletion 16q syndrome: Evidence that 16q12.2-q13 is the critical band region
    • Elder FF, Ferguson JW, Lockhart LH. 1984. Identical twins with deletion 16q syndrome: Evidence that 16q12.2-q13 is the critical band region. Hum Genet 67:233-236.
    • (1984) Hum Genet , vol.67 , pp. 233-236
    • Elder, F.F.1    Ferguson, J.W.2    Lockhart, L.H.3
  • 10
    • 0017703549 scopus 로고
    • Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16))q21)
    • Fryns JP, Melchoir S, Jaeken J, van den Berghe H. 1977. Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16))q21). Hum Genet 38:343-346.
    • (1977) Hum Genet , vol.38 , pp. 343-346
    • Fryns, J.P.1    Melchoir, S.2    Jaeken, J.3    van den Berghe, H.4
  • 12
    • 0026683577 scopus 로고
    • Interstitial deletion of chromosome 16q: 16q22 is critical for 16q-syndrome
    • Fujiwara M, Yoshimoto T, Morita Y, Kamada M. 1992. Interstitial deletion of chromosome 16q: 16q22 is critical for 16q-syndrome. Am J Med Genet 43:561-564.
    • (1992) Am J Med Genet , vol.43 , pp. 561-564
    • Fujiwara, M.1    Yoshimoto, T.2    Morita, Y.3    Kamada, M.4
  • 14
    • 9244261087 scopus 로고    scopus 로고
    • The genetic contribution to congenital heart disease
    • Goldmuntz E. 2004. The genetic contribution to congenital heart disease. Pediatr Clin N Am 51:1721-1737.
    • (2004) Pediatr Clin N Am , vol.51 , pp. 1721-1737
    • Goldmuntz, E.1
  • 15
    • 0032964354 scopus 로고    scopus 로고
    • Clinical relevance of monosomy 22q11.2 in children with pulmonary atresia and ventricular septal defect
    • Hofbeck M, Leipold G, Rauch A, Buheitel G, Singer H. 1999. Clinical relevance of monosomy 22q11.2 in children with pulmonary atresia and ventricular septal defect. Eur J Pediatr 158:302-307.
    • (1999) Eur J Pediatr , vol.158 , pp. 302-307
    • Hofbeck, M.1    Leipold, G.2    Rauch, A.3    Buheitel, G.4    Singer, H.5
  • 16
    • 0021869151 scopus 로고
    • Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters
    • Hoo JJ, Lowry RB, Lin CC, Haslam RH. 1985. Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters. Clin Genet 27:420-425.
    • (1985) Clin Genet , vol.27 , pp. 420-425
    • Hoo, J.J.1    Lowry, R.B.2    Lin, C.C.3    Haslam, R.H.4
  • 17
    • 33750575433 scopus 로고    scopus 로고
    • Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome
    • Khan A, Hyde RK, Dutra A, Mohide P, Liu P. 2006. Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome. Am J Med Genet A 140:2349-2354.
    • (2006) Am J Med Genet A , vol.140 , pp. 2349-2354
    • Khan, A.1    Hyde, R.K.2    Dutra, A.3    Mohide, P.4    Liu, P.5
  • 18
    • 0023248780 scopus 로고
    • Interstitial deletion and ring chromosome derived from 16q
    • Krauss CM, Caldwell D, Atkins L. 1987. Interstitial deletion and ring chromosome derived from 16q. J Med Genet 24:308-312.
    • (1987) J Med Genet , vol.24 , pp. 308-312
    • Krauss, C.M.1    Caldwell, D.2    Atkins, L.3
  • 19
    • 0021087476 scopus 로고
    • Interstitial deletion for a region in the long arm of chromosome 16
    • Lin CC, Lowry RB, Snyder FF. 1983. Interstitial deletion for a region in the long arm of chromosome 16. Hum Genet 65:134-138.
    • (1983) Hum Genet , vol.65 , pp. 134-138
    • Lin, C.C.1    Lowry, R.B.2    Snyder, F.F.3
  • 22
    • 0024434105 scopus 로고
    • Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsinogen B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16
    • Natt E, Magenis RE, Zimmer J, Mansouri A, Scherer G. 1989. Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsinogen B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16. Cytogenet Cell Genet 50:145-148.
    • (1989) Cytogenet Cell Genet , vol.50 , pp. 145-148
    • Natt, E.1    Magenis, R.E.2    Zimmer, J.3    Mansouri, A.4    Scherer, G.5
  • 23
    • 0023554995 scopus 로고
    • Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 → q22.3 in a patient with tyrosinemia type II
    • Natt E, Westphal EM, Toth-Fejel SE, Magenis RE, Buist NR, Rettenmeier R, Scherer G. 1987. Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 → q22.3 in a patient with tyrosinemia type II. Hum Genet 77:352-358.
    • (1987) Hum Genet , vol.77 , pp. 352-358
    • Natt, E.1    Westphal, E.M.2    Toth-Fejel, S.E.3    Magenis, R.E.4    Buist, N.R.5    Rettenmeier, R.6    Scherer, G.7
  • 27
    • 0018125886 scopus 로고
    • A terminal long arm deletion of chromosome 16 in a dysmorphic infant: 46,XY,del(16) (q22)
    • Taysi K, Fishman M, Sekhon GS. 1978. A terminal long arm deletion of chromosome 16 in a dysmorphic infant: 46,XY,del(16) (q22). Birth Defects Orig Artic Ser 14:343-347.
    • (1978) Birth Defects Orig Artic Ser , vol.14 , pp. 343-347
    • Taysi, K.1    Fishman, M.2    Sekhon, G.S.3
  • 28
    • 0034098015 scopus 로고    scopus 로고
    • Congenital Heart Surgery Nomenclature and Database Project: Pulmonary atresia-ventricular septal defect
    • Tchervenkov CI, Roy N. 2000. Congenital Heart Surgery Nomenclature and Database Project: Pulmonary atresia-ventricular septal defect. Ann Thorac Surg 69:S97-105.
    • (2000) Ann Thorac Surg , vol.69
    • Tchervenkov, C.I.1    Roy, N.2
  • 29
    • 33750037002 scopus 로고    scopus 로고
    • Prenatally diagnosed pulmonary atresia with ventricular septal defect: Echocardiography, genetics, associated anomalies and outcome
    • Vesel S, Rollings S, Jones A, Callaghan N, Simpson J, Sharland GK. 2006. Prenatally diagnosed pulmonary atresia with ventricular septal defect: Echocardiography, genetics, associated anomalies and outcome. Heart 92:1501-1505.
    • (2006) Heart , vol.92 , pp. 1501-1505
    • Vesel, S.1    Rollings, S.2    Jones, A.3    Callaghan, N.4    Simpson, J.5    Sharland, G.K.6
  • 31
    • 0036766281 scopus 로고    scopus 로고
    • Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion
    • Yamagishi H, Maeda J, Higuchi M, Katada Y, Yamagishi C, Matsuo N, Kojima Y. 2002. Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion. Clin Genet 62:214-219.
    • (2002) Clin Genet , vol.62 , pp. 214-219
    • Yamagishi, H.1    Maeda, J.2    Higuchi, M.3    Katada, Y.4    Yamagishi, C.5    Matsuo, N.6    Kojima, Y.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.