Tetrasomy 9p mosaicism associated with a normal phenotype

Fetal Diagnosis and Therapy

Volumn 20, Issue 3, 2005, Pages 219-222

  McAuliffe, Fionnuala ^a,b   Winsor, Elizabeth J T ^c,d   Chitayat, David ^a,c  

^a MOUNT SINAI HOSPITAL   (Canada)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c Prenatal Diagn Med Genet Prog   (Canada)

^d Dept of Pathology and Laboratory ^*

Author keywords

Mosaicism; Prenatal diagnosis; Tetrasomy 9p

Indexed keywords

AMNIOCENTESIS; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CHORION VILLUS SAMPLING; CHROMOSOME 9P; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; FEMALE; FETUS; HETEROZYGOTE DETECTION; HUMAN; INFANT; ISOCHROMOSOME; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE; MOSAICISM; NEWBORN; OLIGOSPERMIA; PHENOTYPE; PRENATAL DIAGNOSIS; PRENATAL DISORDER; PRIORITY JOURNAL; SPONTANEOUS ABORTION; SUPERNUMERARY CHROMOSOME; TETRASOMY; UMBILICAL CORD BLOOD;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 9; FATHERS; FEMALE; HUMANS; ISOCHROMOSOMES; MALE; MOSAICISM; OLIGOSPERMIA; PEDIGREE; PHENOTYPE; PREGNANCY; PREGNANCY, MULTIPLE; TWINS;

EID: 17844374099     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000083909     Document Type: Article

References (19)

1. Gardner RJM, Sutherland GR: Chromosome Abnormalities and Genetic Counseling, ed 3. New York, Oxford University Press, 2004, p 271.
2. Sait SNJ, Wetzler M: Tetrasomy 9p with no apparent phenotype characteristics (abstract). Am J Hum Genet 2003;73:285.
3. Dhandha S, Hogge WA, Surti U, McPherson E: Three cases of tetrasomy 9p. Am J Med Genet 2002;113:375-380.
4. Eggermann T, Rossier E, Theurer-Mainka U, Backsch C, Klein-Vogler U, Enders H, Kaiser P: New case of mosaic tetrasomy 9p with additional neurometabolic findings. Am J Med Genet 1998;75:530-533.
5. Kobayashi J, Kimijima Y, Yamada S, Amagasa T, Saito-Ohara F: 4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate. J Craniomaxillofac Surg 2000;28:165-170.
6. Orye E, Verhaaren H, Van Egmond H, Devloo-Blancquaert A: A new case of the trisomy 9P syndrome. Report of a patient with unusual chromosome findings (46,XX/47,XX, +i (9p) and a peculiar congenital heart defect. Clin Genet 1975;7:134-143.
7. Stumm M, Tonnies H, Mandon U, Gotze A, Krebs P, Wieacker PF: Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: Cytogenetic and molecular-cytogenetic studies. Eur J Pediatr 1999;158:571-575.
8. Tonk VS: Moving towards a syndrome: A review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival. Clin Genet 1997;52:23-29.
9. Grass FS, Parke JC Jr, Kirkman HN, Christensen V, Roddey OF, Wade RV, Knutson C, Spence JE: Tetrasomy 9p: Tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review. Am J Med Genet 1993;47:812-816.
10. Jalal SM, Kukolich MK, Garcia M, Benjamin TR, Day DW: Tetrasomy 9p: An emerging syndrome. Clin Genet 1991;39:60-64.
11. Melaragno MI, Brunoni D, da Silva Patricio FR, Corbani M, Mustacchi Z, de Cassia Stocco dos Santos R, Lederman HM: A patient with tetrasomy 9p, Dandy Walker cyst and Hirschsprung disease. Ann Genet 1991;35:79-84.
12. Verheji JB, Bouman K, van Lingen RA, van Lookeren Campagne JG, Leegte B, van der Veen AY, Hofstra RM, Buys CH, van Essen AJ: Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22. Am J Med Genet 1999;86:168-173.
13. Papenhausen P, Riscile G, Miller K, Kousseff B, Tedesco T: Tissue limited mosaicism in a patient with tetrasomy 9p. Am J Med Genet 1990;37:388-391.
14. Calvieri F, Tozzi C, Benincori C, DeMeurulis M, Bellussi A, Genuardi M, Neri G: Partial tetrasomy 9 in an infant with clinical and radiological evidence for multiple joint dislocations. Eur J Pediatr 1988;147:645-648.
15. Cuoco C, Gimelli G, Pasquali F, Poloni L, Zuffardi O, Alicata P, Battaglino G, Bernardi F, Cerone R, Cotellessa M, Ghidoni A, Motta S: Duplication of the short arm of chromosome 9. Analysis of five cases. Hum Genet 1982;61:3-7.
16. Wyandt HE, Lebo RV, Fenerci EY, Sadhu DN, Milunsky JM: Tandem duplication/deletion in a maternally derived chromosome 9 supernumerary derivative resulting in 9p trisomy and partial 9q tetrasomy. Am J Med Genet 2000;93:305-312.
17. Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A: Isochromosomes 12p and 9p: Parental origin and possible mechanisms of formation. Eur J Hum Genet 1998;6:140-144.
18. McDowall AA, Blunt S, Berry AC, Fensom AH: Prenatal diagnosis of a case of tetrasomy 9p. Prenat Diagn 1989;9:809-811.
19. Schaefer GB, Domek DB, Morgan MA, Muneer RS, Johnson SF: Tetrasomy of the short arm of chromosome 9: Prenatal diagnosis and further delineation of the phenotype. Am J Med Genet 1991;38:612-615.