Truncus arteriosus and isochromosome 8q [4]

American Journal of Medical Genetics

Volumn 133 A, Issue 2, 2005, Pages 223-224

  Silengo, Margherita ^a   Rulli, Immacolata ^a   Delmonaco, Angelo Giovanni ^a   Ferrero, Giovanni Battista ^a   Pucci, Angela ^b   Sanna, Remonda ^c  

^a UNIVERSITY OF TURIN   (Italy)

^b REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF SASSARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; ARTERIAL TRUNK; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; FACE DYSMORPHIA; FACE MALFORMATION; HUMAN; ISOCHROMOSOME; ISOCHROMOSOME 8Q; KARYOTYPING; LETTER; MALE; NEWBORN; OLIGOHYDRAMNIOS; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 8; ECHOCARDIOGRAPHY; FACE; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; ISOCHROMOSOMES; MALE; SYNDROME; TRUNCUS ARTERIOSUS, PERSISTENT;

EID: 14044271511     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30489     Document Type: Letter

References (14)

1. Digilio MC, Giannotti A, Marino B, Dallapiccola B. 1993. Atrioventricular canal and 8p-syndrome. Am J Med Genet 47:437-438.
2. Digilio MC, Marino B, Guccione P, Giannotti A, Mingarelli R, Dallapiccola B. 1998. Deletion 8p syndrome. Am J Med Genet 75:534-536.
3. Digilio MC, Angioni A, Giannotti A, Dallapiccola B, Marino B. 2003. Truncus arteriosus and duplication 8q. Am J Med Genet 121A:79-81.
4. Donnenfeld AE, Coyne MD, Beauregard LJ. 1990. De novo inverted interstitial duplication of chromosome 8(q13 → q24.1) in a liveborn male. Am J Med Genet 35:529-531.
5. Gelb BD, Towbin JA, McCabe ERB, Sujanski E. 1991. San Luis Valley Recombinant chromosome 8 and tetralogy of Fallot: A review of chromosome 8 anomalies and congenital heart disease. Am J Med Genet 40:471-476.
6. Giglio S, Graw SL, Gimelli G, Pirola B, Varone P, Voullaire L, Lerzo F, Rossi E, Dellavecchia C, Bonaglia MC, Digilio MC, Giannotti A, Marino B, Carrozzo R, Korenberg JR, Danesino C, Sujanski E, Dallapiccola B, Zuffardi O. 2000. Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation 102:432-437.
7. Goldmuntz E, Clark BJ, Mitchell LE, Jaead AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA. 1998. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 32:492-498.
8. Marino B, Reale A, Giannotti A, Digilio MC, Dallapiccola B. 1992. Nonrandom association of atrioventrcular canal and del(8p) syndrome. Am J Med Genet 42:424-427.
9. Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, de Ioris MA, Angioni A, Dallapiccola B. 2001. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med 3:45-48.
10. Romain DR, Bloxham RA, Columbano-Green LM, Champan CJ, Parfitt RG, Smythe RH, Cairney H. 1989. Familial distal trisomy 8(q24.13 → qter). J Med Genet 26:133-138.
11. Stengel-Rutkowsi S, Lohse K, Herzog C, Apacik C, Couturier J, Albert A, Belohradsy B. 1992. Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: Phenotype analyses and reflections on the risk. Clin Genet 42:178-185.
12. Sujanski E, Smith ACM, Prescott KE, Freehauf CL, Clericuzio C, Robinson A, 1993. Natural history of the recombinant (8) syndrome. Am J Med Genet 47:512-525.
13. Townes PL, White MR. 1978. Inherited partial trisomy 8q (22 → qter). Am J Dis Child 132:498-501.
14. Walker AP, Bocian M. 1987. Partial duplication 8q12-q21.2 in two sibs with maternally derived insertional and reciprocal translocations: Case reports and review of partial duplications of chromosome 8. Am J Med Genet 27:3-22.