Prenatal detection and mapping of a distal 8p deletion associated with congenital heart disease

Prenatal Diagnosis

Volumn 19, Issue 9, 1999, Pages 863-867

  Bhatia, Sangeeta N ^a,b   Suri, Veena ^c   Bundy, Albert ^d   Krauss, Celeste M ^a,e  

^a HARVARD MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c Genzyme Genetics   (United States)

^d Boston Ultrasound Consultants   (United States)

^e HARVARD VANGUARD MEDICAL ASSOCIATES   (United States)

Author keywords

8p deletion; Atrio ventricular canal; Fish; Prenatal diagnosis

Indexed keywords

ZINC FINGER PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME 8P; CHROMOSOME DELETION; CONGENITAL HEART DISEASE; FEMALE; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; GENETIC COUNSELING; GESTATIONAL AGE; HEART DEVELOPMENT; HEART RIGHT VENTRICLE; HUMAN; MENTAL DEFICIENCY; MICROCEPHALY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SUPERIOR CAVA VEIN;

ADULT; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PREGNANCY; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 0032836994     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199909)19:9<863::AID-PD640>3.0.CO;2-I     Document Type: Article

References (31)

1. Arceci RJ, King AA, Simon MC, Orkin SH, Wilson DB. 1993. Mouse GATA-4: a retinoic acid-inducible GATA-binding transcription factor expressed in endodermally derived tissues and heart. Mol Cell Biol 13: 2235-2246.
2. Blennow E, Brondum-Nielsen K. 1990. Partial monosomy 8p with minimal dysmorphic signs. J Med Genet 27: 327-329.
3. Bresson JL, Nori A, Scherrer M. 1977. Deletion partielle du bras court du chromosome 8. Ann Genet 20: 70-72.
4. Brocker-Vriends AHJT, Mooji PD, Van Bel F, Beverstock GC, Van de Kamp JJP. 1986. Monosomy 8p: an easily overlooked syndrome. J Med Genet 23: 153-154.
5. Claeys I, Holvoet M, Eyskens B, Adriaensens P, Gewillig M, Fryns JP, Devriendt K. 1997. A recognizable behavioral phenotype associated with terminal deletions of the short arm of chromosome 8. Am J Med Genet 74: 515-520.
6. Dallapiccola B, Mingarelli R, Novelli G. 1995. The link between cytogenetics and mendelism. Biomed Pharm 49: 83-93.
7. Devriendt K, Van Schoubroeck D, Eyskens B, Gewellig M, Vandenberghe K, Fryns JP. 1998. Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrio-ventricular septal defect. Prenat Diagn 18: 65-67.
8. Digilio MC, Giannotti A, Marino B, Dallapiccolo B. 1993. Atrio-ventricular canal and 8p-syndrome (letter to the Editor). Am J Med Genet 47: 437-438.
9. Digilio MC, Marino B, Guccione P, Giannotti A, Mingarelli R, Dallapiccola B. 1998. Deletion 8p syndrome. Am J Med Genet 75: 534-536.
10. Dobyns WB, Dewald GW, Carlson RO, Mair DD, Michels VV. 1985. Deficiency of chromosome 8p21.1→8pter: case report and review of the literature. Am J Med Genet 22: 125-134.
11. Faivre L, Morichon-Delvallez G, Viot G, Narcy F, Loison S, Mandelbrot L, Aubry MC, Raclin V, Edery P, Munnich A, Vekemans M. 1998. Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature. Prenat Diagn 18: 1055-1060.
12. Fryns JP, Kleczkowscka A, Vogels A, Van Den Berghe H. 1989. Normal phenotype and slight mental retardation in de novo distal 8p deletion (8p23.1→pter). Ann Genet 32: 171-173.
13. Huang W-Y, Cukerman E, Liew C-C. 1995. Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA. Gene 155: 219-223.
14. Huang W-Y, Heng HHQ, Liew C-C. 1996. Assignment of the human GATA4 gene to 8p22→p23.1 using fluorescence in situ hybridization analysis. Cytogenet Cell Genet 72: 217-218.
15. Hutchinson R, Wilson M, Voullaire L. 1992. Distal 8p deletion (8p23.1→8pter): a common deletion? J Med Genet 29: 407-411.
16. Jackson AP, McHale DP, Campbell DA, Jafri H, Rashid Y, Mannan J, Karbani G, Corry P, Levene MI, Mueller RF, Markham AF, Lench NJ, Woods CG. 1998. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 63: 541-546.
17. Kuo CT, Morrisey EE, Anandappa R, Sigrist K, Lu MM, Parmacek MS, Soudais C, Leiden JM. 1997. GATA4 transcription factor is required for ventral morphogenesis and heart tube formation. Gene Dev 11: 1048-1060.
18. Ligon AH, Beaudet AL, Shaffer LG. 1997. Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay mental and retardation. Am J Hum Genet 61: 51-59.
19. Marino B, Reale A, Gionnotti A, Digilio MC, Dallapiccola B. 1992. Nonrandom association of atrioventricular canal and del (8p) syndrome. Am J Med Genet 42: 424-427.
20. Marynen P, Devriendt K, Van Dael R, Vermeesch JR, Matthijs G, Bröndum-Nielsen K, Hjalgrim H, Fryns JP. 1998. The GATA4 gene is located in the critical deletion region for congenital heart defects on chromosome 8p23.1. American Society of Human Genetics, 48th Annual Meeting, Denver, Colorado.
21. Molkentin JD, Kalvakolanu DV, Markham BE. 1994. Transcription factor GATA-4 regulates cardiac muscle-specific expression of the alpha-myosin heavy-chain gene. Mol Cell Biol 14: 4947-4957.
22. Molkentin JD, Lin Q, Duncan SA, Olson EN. 1997. Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Gene Dev 11: 1061-1072.
23. Morrison PJ, Jones J, Nevin NC. 1992. Interstitial deletion 8p21.3→8p23.1 in a 6-year-old girl. Am J Med Genet 42: 678-680.
24. Narita N, Bielinska M, Wilson DB. 1997. Wild-type endoderm abrogates the ventral developmental defects associated with GATA-4 deficiency in the mouse. Dev Biol 189: 270-274.
25. Orye E, Craen M. 1976. A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p-chromosome constitution. Clin Genet 9: 289-301.
26. Ostergaard GZ, Tommerup N. 1989. The 8p-syndrome. Ann Genet 32: 87-91.
27. Patil SR, Hanson JW. 1980. Partial 8p-syndrome. J Hum Genet 28: 123-129.
28. Pecile V, Petroni MG, Fertz MC, Filippi G. 1990. Deficiency of distal 8p - report of two cases and review of the literature. Clin Genet 37: 271-278.
29. Reiss JA, Brenes PM, Chamberlin J, Magenis RE, Lovrien EW. 1979. The 8p-syndrome. Hum Genet 47: 135-140.
30. Rizzo R, Pavone L. 1995. Autosomal-recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose. Am J Med Genet 59: 421-425.
31. Wu BL, Schneider GH, Sabatino DE, Bozovic LZ, Cao B, Korf BR. 1996. Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation. Am J Med Genet 62: 77-83.