Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature

Prenatal Diagnosis

Volumn 18, Issue 10, 1998, Pages 1055-1060

  Faivre, L ^a   Morichon Delvallez, N ^a   Viot, G ^a   Narcy, F ^b   Loison, S ^a   Mandelbrot, L ^b   Aubry, M C ^b   Raclin, V ^a   Edery, P ^a   Munnich, A ^a   Vekemans, M ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Hôpital Port Royal ^*  (France)

Author keywords

Atrio ventricular canal; Deletion of short arm chromosome 8; Diaphragmatic hernia; Prenatal diagnosis

Indexed keywords

ARTICLE; ATRIOVENTRICULAR CANAL; CASE REPORT; CHROMOSOME 8P; CHROMOSOME DELETION; DIAPHRAGM HERNIA; FETUS; FETUS ECHOGRAPHY; HEART ATRIUM SEPTUM DEFECT; HUMAN; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; CHROMOSOMES, HUMAN, PAIR 8; CRANIOFACIAL ABNORMALITIES; FEMALE; GENE DELETION; HERNIA, DIAPHRAGMATIC; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 18244418895     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(1998100)18:10<1055::AID-PD405>3.0.CO;2-I     Document Type: Article

References (24)

1. Blennow, E., Bröndum-Nielsen, K. (1992). Partial monosomy 8p with minimal dysmorphic signs, J. Med. Genet., 27, 327-329.
2. Bollmann, R., Kalache, K., Mau, H., Chaoui, R., Tennstedt, C. (1995). Associated malformations and chromosomal defects in congenital diaphragmatic hernia, Fetal Diagn. Ther., 10, 52-59.
3. Bröcker-Vriends, A.H.J.T., Mooij, P.D., Van Bel, F., Beverstocks, G.C., Van de kamp, J.J.P. (1986). Monosomy 8p: an easily overlooked syndrome, J. Med. Genet., 23, 153-154.
4. David, T.J., Illingworth, C.A. (1976). Diaphragmatic hernia in the south-west of England, J. Med. Genet., 13, 253-262.
5. Devriendt, K., De Mars, K., De Cock, P., Gewillig, M., Fryns, J.P. (1995). Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome, Ann. Génét., 38, 228-230.
6. Digilio, M.C., Giannotti, A., Marino, B., Dallapiccola, B. (1993). Atrioventricular canal and 8p-syndrome, Am. J. Med. Genet., 47, 437-438.
7. Dobyns, W.B., Dewald, G.W., Carlson, R.O., Mair, D.D., Michels, V.V. (1985). Deficiency of chromosome 8p21.1→8pter: case report and review of the literature, Am. J. Med Genet., 22, 125-134.
8. Dommergues, M., Louis-Sylvestre, C., Mandelbrot, L., Oury, J.F., Herlicoviez, M., Body, G., Gamerre, M., Sarramon, M.F., Favre, R., Dumez, Y. (1996). Hernies de la coupole diaphragmatique: valeur pronostique de l'échographie prénatale, Médecine Foetale et Echographie en Gynécologie, 27, 30-34.
9. Pagan, K., Wilkinson, I., Allen, M., Brownlea, S. (1988). The coagulation factor is located on 8p23.1, Hum. Genet., 79, 365-367.
10. Floridia, G., Piantanida, M., Minelli, A., Dellavecchia, C., Bonaglia, C., Rossi, E., Gimelli, G., Croci, G., Franchi, F., Gilgenkrantz, S., Grammatico, P., Dalprá, L., Wood, S., Danesino, C., Zuffardi, O. (1996). The same molecular mechanism at the maternal meiosis I produces mono-and dicentric 8p duplications, Am. J. Hum. Genet., 58, 785-796.
11. Fryns, J.P., Kleczkowska, A., Vogels, A., Van den Berghe, H. (1989). Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter→8p23.1), Ann. Génet., 32, 171-173.
12. Howe, T., Kilby, D., Sirry, H., Barker, G.M., Roberts, E., Davidson, E.V., McHugo, J., Whittle, M.J. (1996). Structural chromosome anomalies in congenital diaphragmatic hernia, Prenat. Diagn., 16, 1003-1009.
13. Hutchinson, R., Wilson, M., Voullaire, L. (1992). Distal 8p deletion (8p23.1→8pter): a commun deletion?, J. Med. Genet., 29, 407-411.
14. Marino, B., Reale, A., Giannoti, A., Digilio, M.C., Dallapiccola, B. (1992). Nonrandom association of atrioventricular canal and del (8p) syndrome, Am. J. Med Genet., 42, 424-427.
15. Pecile, V., Petroni, N.G., Fertz, N.C., Filippi, G. (1990). Deficiency of distal 8p-: report of two cases and review of the literature, Clin. Genet., 37, 271-278.
16. Pettenati, M.J., Rao, N., Johnson, C., Hayworth, R., Crandall, K., Huff, O., Thomas, I.T. (1992). Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation, Hum. Genet., 89, 602-606.
17. Philip, N., Gambarelli, D., Guys, J.M., Camboulives, J., Ayme, S. (1991). Epidemiological study of congenital diaphragmatic defects with special reference to aetiology, Eur. J. Pediatr., 150, 726-729.
18. Plomp, A.S., Schrander-Stumpel, C.T.R.M., Engelen, J.J.M., Sijstermans, J.M.J., Loneus, W.H., Fryns, J.P. (1995). Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature, Genet. Counsel., 6, 55-60.
19. Reiss, J.A., Brenes, P.M., Chamberlin, J., Magenis, R.E., Lovrien, E.W. (1979). The 8p-syndrome, Hum. Genet., 47, 135-140.
20. Romero, R., Pilu, G., Jeanty, P., Caidini, A., Hobbins, J.C. (1988). The heart. In: Romero, R., Pilu, G., Jeanty, P., Caidini, A., Hobbins, J.C. (Eds). Prenatal Diagnosis of Congenital Anomalies, Appleton and Lange, 144-145.
21. Scott Adzick, N., Vacanti, J.P., Lillehei, C.W., Pearl O'Rourke, P., Crone, R.K., Wilson, J.M. (1989). Fetal diaphragmatic hernia: ultrasound diagnosis and clinical outcome in 38 cases, J. Pediatr. Surg., 24, 654-658.
22. Thorpe-Beeston, J.G., Gosden, C.M., Nicolaides, K.H. (1989). Prenatal diaphragmatic hernia: associated malformations and chromosomal defects, Fetal Ther., 4, 21-26.
23. Wilkie, A.O.M., Lamb, J., Harris, P.C., Finney, R.D., Higgs, D.R. (1990). A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n, Nature, 346, 868-871.
24. Wu, B.L., Schneider, G.H., Sabatino, D.E., Bozovic, L.Z., Cao, B., Korf, B.R. (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.