Inverted duplication/deletion of the short arm of chromosome 8 in two patients with tetralogy of Fallot

Pediatrics International

Volumn 44, Issue 5, 2002, Pages 534-536

  Masuda, Kiminori ^a   Nomura, Yuichi ^a   Yoshinaga, Masao ^a   Nakamura, Mihoko ^a   Matsuda, Yukihisa ^a   Oku, Shozo ^a   Miyata, Koichiro ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Chromosomal aberration; Congenital heart defect; Inverted duplication deletion of chromosome 8p; Tetralogy of Fallot

Indexed keywords

AGE; AGENESIS; ARTICLE; BODY POSTURE; BODY WEIGHT; CASE REPORT; CHILD; CHROMOSOME 8; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DISORDER; CHROMOSOME DUPLICATION; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CORPUS CALLOSUM; CYANOSIS; CYTOGENETICS; DELIVERY; DISEASE ASSOCIATION; DISEASE SEVERITY; FACIES; FALLOT TETRALOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GESTATIONAL AGE; HEALTH STATUS; HEARING LOSS; HEART ATRIUM SEPTUM DEFECT; HEART MURMUR; HUMAN; JAPAN; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT REFERRAL; PHYSICAL EXAMINATION; PREGNANCY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SIBLING; SURGICAL TECHNIQUE;

CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; HUMANS; MALE; TETRALOGY OF FALLOT;

EID: 0036379574     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2002.01593.x     Document Type: Article

References (11)

1. Payne RM, Johnson MC, Grant JW, Strauss AW. Toward a molecular understanding of congenital heart disease. Circulation 1995; 91: 494-504.
2. Burn J, Takao A, Wilson D et al. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J. Med. Genet. 1993; 30: 822-4.
3. Wilson DI, Burn J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH 22. J. Med. Genet. 1993; 30: 852-6.
4. Devriendt K, Matthijs G, Dael RV et al. Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am. J. Genet. 1999; 64: 1119-26.
5. Giglio S, Graw SL, Gimelli G et al. Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation 2000; 102: 494-504.
6. Sujansky E, Smith ACM, Peakman DC, McConnell TS, Baca P, Robinson A. Familial pericentric inversion of chromosome 8. Am. J. Med. Genet. 1981; 10: 229-35.
7. Williams TM, McConnel TS, Martinez F, Smith ACM, Sujansky E. Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome. Hum. Pathol. 1984; 15: 1080-4.
8. Gelb BD, Towbin JA, McCabe ERB, Sujansky E. San Luis Vally recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease. Am. J. Med. Genet. 1991; 40: 471-6.
9. Dill FJ, Schertzer M, Sandercock J, Tischler B, Wood S. Inverted tandem duplication generates a duplication deficiency of chromosome 8p. Clin. Genet. 1987; 32: 109-13.
10. Guo WJ, Callif-Daley F, Zapata MC, Miller ME. Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of telomeric deletion using fluorescence in situ hybridization. Am. J. Med. Genet. 1995; 58: 230-6.
11. Momma K, Matsuoka R, Takao A. Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH22). Pediatr. Cardiol. 1999; 20: 97-102.