Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion

Prenatal Diagnosis

Volumn 22, Issue 12, 2002, Pages 1063-1066

  Chen, Chih Ping ^a,b   Chang, Tung Yao ^a   Shih, Jin Chung ^c   Lin, Shuan Pei ^a   Lin, Chen Ju ^a   Wang, Wayseen ^a   Lee, Chen Chi ^a   Town, Dai Dyi ^a   Pan, Chen Wen ^a   Tzen, Chin Yuan ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Dandy Walker malformation; Distal 12p deletion; Prenatal diagnosis; Trisomy 9p; Ultrasound

Indexed keywords

ADULT; AGENESIS; AMNIOCENTESIS; AMNION CELL; ARTICLE; AUTOPSY; BRACHYCEPHALY; CASE REPORT; CELL CULTURE; CENTRAL NERVOUS SYSTEM; CEREBELLUM; CEREBELLUM VERMIS; CHROMOSOME 12P; CHROMOSOME 9P; CISTERNA MAGNA; CYTOGENETICS; DANDY WALKER SYNDROME; DISEASE ASSOCIATION; FEMALE; FETUS; FETUS DEVELOPMENT; GENE DELETION; GENE DOSAGE; GENE LOCATION; GENE TRANSLOCATION; GESTATIONAL AGE; HUMAN; KARYOTYPE; MONOSOMY; PARTIAL TRISOMY 9; PHENOTYPE; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; ULTRASOUND; BRAIN; CHROMOSOME 12; CHROMOSOME 9; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CONGENITAL MALFORMATION; ECHOGRAPHY; GENETICS; HEART VENTRICLE; PATHOLOGY; PREGNANCY; TRISOMY;

ADULT; AMNIOCENTESIS; BRAIN; CELLS, CULTURED; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 9; DANDY-WALKER SYNDROME; FEMALE; GESTATIONAL AGE; HEART VENTRICLES; HUMANS; PREGNANCY; TRISOMY; ULTRASONOGRAPHY, PRENATAL;

EID: 18744412353     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.459     Document Type: Article

References (23)

1. Baroncini A, Avellini C, Neri C, Forabosco A. 1990. Distal 12p deletion in a stillbirth infant. Am J Med Genet 36: 358-360.
2. Bernard JP, Moscoso G, Renier D, Ville Y. 2001. Cystic malformations of the posterior fossa. Prenat Diagn 21: 1064-1069.
3. Bureau YA, Fraser W, Fouquet B. 1993. Prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy-Walker malformation. Prenat Diagn 13: 79-85.
4. Carmel PW, Antunes JL, Hilal SK, Gold AT. 1977. Dandy-Walker syndrome: Clinicopathological features and reevaluation of the modes of treatment. Surg Neurol 8: 132-138.
5. Centerwall WR, Beatty-De Sana JW. 1975. The trisomy 9p syndrome. Pedatrics 56: 748-755.
6. Chen C-P, Shih J-C. 1999. Prenatal diagnosis of bilateral ventriculomegaly and an enlarged cisterna magna in a fetus with partial trisomy 9 and partial trisomy 21. Prenat Diagn 19: 1175-1180.
7. Cornford E, Twining P. 1992. The Dandy-Walker syndrome: The value of antenatal diagnosis. Clin Radiol 45: 172-174.
8. Ecker JL, Shipp TD, Bromley B, Benacerraf B. 2000. The sonographic diagnosis of Dandy-Walker and Dandy-Walker variant: Associated findings and outcomes. Prenat Diagn 20: 328-332.
9. Federico A, Tomasetti P, Zollino M, et al. 1999. Association of trisomy 9p and band heterotopia. Neurology 53: 430-432.
10. Feingold M, Atkins L. 1973. A case of trisomy 9. J Med Genet 10: 184-187.
11. Fryns JP. 1998. Trisomy 9p and tetrasomy 9p: A unique, clinically recognisable syndrome. Genet Counsel 9: 229-230.
12. Ginsberg J, Soukup S, Bendon RW. 1989. Further observations of ocular pathology in trisomy 9. J Pediatr Ophthalmol Strabism 26: 246-249.
13. Glass IA, Trenholme A, Mildenhall L, Bailey RJ, Cotter PD. 2000. Mild phenotype in two siblings with distal monosomy 12p13.31→pter. Clin Genet 57: 401-405.
14. Hirsch JF, Pierre-Kahn A, Renier D, Sainte-Rose C, Hoppe-Hirsch E. 1984. The Dandy-Walker malformation: A review of 40 cases. J Neurosurg 61: 515-522.
15. Kivlin JD, Fineman RM, Williams MS. 1985. Phenotypic variation in the del(12p) syndrome. Am J Med Genet 22: 769-779.
16. Mace SE, Macintyre MN, Turk KB, Johnson WE. 1978. The trisomy 9 syndrome: Multiple congenital anomalies and unusual pathological findings. J Pediatr 92: 446-448.
17. Murray JC, Johnson JA, Bird TD. 1985. Dandy-Walker malformation: Etiologic heterogeneity and empiric recurrence risks. Clin Genet 28: 272-283.
18. Nyberg DA, Mahony BS, Hegge FN, Hickok D, Luthy DA, Kapur R. 1991. Enlarged cisterna magna and the Dandy-Walker malformation: Factors associated with chromosome abnormalities. Obstet Gynecol 77: 436-442.
19. Russ PD, Pretorius DH, Johnson MJ. 1989. Dandy-Walker syndrome, a review of 15 cases evaluated by prenatal sonography. Am J Obstet Gynecol 161: 401-406.
20. Schinzel A. 1983. Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin: de Gruyter; 844-846.
21. von Kaisenberg CS, Caliebe A, Krams M, Hackelöer BJ, Jonat W. 2000. Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype. Am J Med Genet 95: 425-428.
22. Wilson GN, Raj A, Baker D. 1985. The phenotypic and cytogenetic spectrum of partial trisomy 9. Am J Med Genet 20: 277-282.
23. Young RS, Reed T, Hodes ME, Palmer CG. 1982. The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes. Hum Genet 62: 31-39.