Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case

Annales de Genetique

Volumn 43, Issue 1, 2000, Pages 45-50

  Granata, Paola ^a   Mazzola, Daniel ^a   Righi, Rossana ^a   Minelli, Elio ^a   Salvatoni, Alessandro ^a   Baroli, Paolo ^b   Maggi, Federico ^b   Casalone, Rosario ^a  

^a UNIVERSITY OF INSUBRIA   (Italy)

^b Laboratorio TOMA   (Italy)

Author keywords

10p trisomy; Chromosome; FISH; Phenotype

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 10P; CHROMOSOME BANDING PATTERN; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; KARYOTYPE; MALE; MOLECULAR GENETICS; PHENOTYPE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TRISOMY;

EID: 0034107259     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-3995(00)00014-9     Document Type: Article

References (12)

1. Clement S.J., Leppig K.A., Jarvik G.P., Kapur R.P., Norwood T.H. Trisomy 10p: report of an unusual mechanism of formation and critical evaluation of the clinical phenotype. Am. J. Med. Genet. 65:1996;197-204.
2. Dallapiccola B., Lungarotti M.S., Magnani M., Dacha M. Evidence of gene dosage effect for HK1 in the red cells of a patient with trisomy 10pter-pl3. Ann. Génét. 24:1981;45-47.
3. de Chieri P., Spatuzza E., Bonich J.M. Brother and sister with trisomy 10p: 46,XY,(22p+)mat; 46,XX, (22p+)mat. Hum. Genet. 45:1978;71-75.
4. Decker R.A., Ponder B.A., Mole S.E., Weber J.L. Dinucleotide repeat polymorphisms at the DI0S183 and Dl0S245 loci. Hum. Mol. Genet. 1:1992;177.
5. Gonzalez C.H., Billerbeck A.E.C., Takayama L.C., Wajntal A. Duplication l0p in a girl due to a maternal translocation t(10;14) (pl l;pl2). Am. J. Med. Genet. 14:1983;159-167.
6. Hustinx Th.W.J., ter Haar B.G.A., Scheres J.M.J.C., Rutten F.J. Trisomy for the short arm of chromosome N°10. Clin. Genet. 6:1974;408-415.
7. Nakagome Y., Kobayashi H. Trisomy of the short arm of chromosome 10. J. Med. Genet. 12:1975;412-427.
8. Orye E., van Haesebrouck P., van Coster R., van Mele B. Trisomy 10p, due to an unusual translocation. J. Genet. Hum. 33:1985;63-66.
9. Rooney D.E., Czepulkowski B.H. Human Cytogenetics: a Pratical Approach. 1986;IRL Press, Oxford.
10. Snyder F.F., Lin C.C., Rudd N.L., Shearer J.E., Heikkila E.M., Hoo J.J. A de novo case of trisomy 10p: Gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase. Hum. Genet. 67:1984;187-189.
11. Weissenbach J., Gyapay G., Dib C., Vignal A., Morisette J., Millasseau P., Vaysseix G., Lathrop M. A second-generation linkage map of the human genome. Nature. 359:1992;794-801.
12. Yunis E., Silva R., Giraldo A. Trisomy l0p. Ann. Génét. 19:1976;57-60.