Prenatal diagnosis and fetopathological findings in a fetus with ring chromosome 18

Fetal Diagnosis and Therapy

Volumn 13, Issue 5, 1998, Pages 315-320

  Thies, U ^a,d   Bartels, I ^a   Von Beust, G ^a   Bink, K ^a   Hansmann, I ^a   Rehder, H ^c   Suren, A ^b   Zoll, B ^a  

^a Institut fur Humangenetik   (Germany)

^b UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^c Abteilung für Klinische Genetik   (Germany)

^d UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

Monosomy 18; Mosaicism 18p syndrome; Phenotype, fetal; Prenatal diagnosis; Ring chromosome 18

Indexed keywords

AMNIOTIC FLUID CELL; ARTICLE; AUTOPSY; CASE REPORT; CELL CULTURE; CHORION VILLUS; CHROMOSOME 18; CHROMOSOME ANALYSIS; CORPUS CALLOSUM AGENESIS; FACE DYSMORPHIA; FEMALE; FETUS; FETUS BLOOD; FIBROBLAST; GESTATIONAL AGE; HEART ATRIUM SEPTUM DEFECT; HUMAN; KARYOTYPE; MONOSOMY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RING CHROMOSOME;

EID: 0031722108     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000020861     Document Type: Article

References (24)

1. Eiben B, Unger M, Stoltenberg G, Rutt G, Goebel R, Meyer A, Gamerdinger U, Hammans W, Hansen S, Hauss H, Vogel M, Schwanitz G: Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism. Prenat Diagn 1992;12:945-950.
2. Los FJ, van den Berg C, Braat APG, Cha'ban FK, Kros JM, Van Opstal D: Ring chromosome 18 in a fetus with only facial anomalies. Am J Med Genet 1996;66:216-220.
3. Lichter P, Cremer T, Borden J, Manuelidis L, Ward DC: Delineation of individual human chromosomes in metaphase and interphase cells by in situ hybridization using recombinant DNA libraries. Hum Genet 1988;80:224-234.
4. Klever M, Grond-Ginsbach C, Scherthan H, Schroeder-Kurth T: Chromosomal in situ suppression hybridization after Giemsa banding. Hum Genet 1991;86:484-486.
5. Eiben B, Schübbe I, Borgmann S, Hansmann I: Cytogenetic analysis of early human abortuses after preparation of chromosomes directly from chorionic villi. Hum Genet 1983;72:189.
6. Simoni G, Brambati SB, Dernesino C, Rosella F, Terzoli GL, Ferrari M, Fraccaro M: Efficient direct chromosome analysis and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet 1983; 63:349-357.
7. Ledbetter DH, Zachary JM, Simpson JL, Goldbus MS, Pergament E, Jackson L, Mahoney MJ, Desnick RJ, Schulman J, Lopeland KL, Verlincky Y, Fang-Feng T, Schonberg SA, Babu A, Tharapel AT, Dorfmann H, Lubs HA, Rhoads GG, Fowler SE, de la Cruz FF: Cytogenetic results from the US collaborative study on CVS. Prenat Diagn 1992;12:317-345.
8. Phillips OP, Tharapel AT, Lerner JL, Park VM, Wachtel SS, Shulman LP: Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling. Am J Obstet Gynecol 1996;174:850-854.
9. Miny P, Hammer P, Gerlach B, Tercauli S, Horst J, Holzgreve W, Eiben B: Mosaicism and accuracy of prenatal cytogenetic diagnosis after chorionic villus sampling and placental biopsies. Prenat Diagn 1991;11:581-589.
10. Crane JP, Cheung SW: An embryogenetic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue. Prenat Diagn 1988;8:119-129.
11. Blakemore KJ, Samuelson J, Breg WR, Mahoney MJ: Maternal metaphases on direct chromosome preparations of first trimester decidua. Hum Genet 1985;69:380.
12. Simoni G, Rosella F, Lalatta F, Fraccaro M: Maternal metaphases on direct preparation from chorionic villi and in cultures of villi cells. Hum Genet 1986;72:104.
13. Gardner RJM, Sutherland GR: Chromosome Abnormalities and Genetic Counseling. New York, Oxford University Press, 1992, p 89.
14. Rooney DE, Czepulkowski BH: Human Cytogenetics. New York, Oxford University Press, 1992, vol 1, pp 21-22.
15. Lansky S, Daniel W, Fleiszer K: Physical retardation associated with ring chromosome mosaicism: 46,XXr(10)/45,XX,10-. J Med Genet 1997;14:61-80.
16. Wyandt HE: Ring autonomes: Identification, familial transmission, causes of phenotypic effects and in vitro mosaicism: in Sanderer A (ed): Progress and Topics in Cytogenetics. New York, Liss, 1988, pp 667-695.
17. Grouchy J de, Lamy M, Thieffry S, Arthuis M, Salmon Ch: Dysmorphie complexe avec oligophrénie: délétion de bras courts d'un chromosome 17-18. C R Acad Sci 1963;256:1028-1029.
18. Grouchy J de, Royer P, Salmon C, Lamy M: Délétion partielle de bras long du chromosome 18. Pathol Biol 1964;12:579-582.
19. Kunze J, Stephan E, Tolksdorf M: Ringchromosom 18. Ein 18p-/18q Deletionssyndrom. Humangenetik 1972;15:289-318.
20. Hecht F, Vlietinck R: Autosomal rings and variable phenotypes. Humangenetik 1973;18: 99-100.
21. Schinzel A: Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin, de Gruyter, 1984.
22. Meloni A, Boccone L, Angius L, Loche S, Falchi AM, Cao A: Hypothalamic growth hormone deficiency in a patient with ring chromosome 18. Eur J Pediatr 1994;153:110-112.
23. Bird LM, Pretorius DH, Mendoza AE, Jones MC: Anencephaly with holoprosencephalic facies due to ring chromosome 18. Clin Dysmorphol 1997;6:351-358.
24. Maaswinkel-Mooij PD, de Jong P, Beverstock GC: 46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q-syndrome. Clin Genet 1993;43:76-78.