Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review

Journal of Medical Genetics

Volumn 37, Issue 7, 2000, Pages 529-532

  Heller, Anita ^a   Claussen, U ^a   Liehr, T ^a   Seidel, J ^b   Hubler A ^b   Starke, H ^a   Beensen, V ^a   Senger, G ^c   Rocchi, M ^d   Wirth, J ^e   Chudoba, I ^f  

^a Institut fur Humangenetik und Anthropologie   (Germany)

^b Children's Hospital   (Germany)

^c Practice of Medical Genetics and Gynaecology   (Germany)

^d Institute of Genetics   (Italy)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^f Metasystems Inc   (Germany)

Author keywords

CGH; FISH; Partial trisomy 9q; Pyloric stenosis

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 9Q; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; CHROMOSOME PAINTING; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; HUMAN; PARTIAL TRISOMY; PRIORITY JOURNAL; PYLORUS STENOSIS; YEAST ARTIFICIAL CHROMOSOME;

EID: 0033920996     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.7.529     Document Type: Article

References (26)

1. Turleau C, de Grouchy J, Chavin-Colin F, Roubin M, Brissaud PE, Represse G, Safar A, Borniche P. Partial trisomy 9q: a new syndrome. Hum Genet 1975;29:233-41.
2. Maraschio P, Maserati E, Seghezzi L, Tupler R, Verri MP, Tiepolo L. Involvement of 9q22.1-31.3 region in pyloric stenosis. Clin Genet 1998;54:159-60.
3. Kleczkowska A, Fryns JP, Lemay P, Van Den Berghe H. The characteristic phenotype of distal 9q3 trisomy is due to duplication of band 9q32. Genet Counsel 1993;4:217-21.
4. Lindgren V, Rosinsky B, Chin J, Berry-Kravis E. Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence. Am J Med Genet 1994;49:67-73.
5. Chamla Y, Bilbeissi C, Micheau M, Battin J. Partial 9q trisomy associated with a 9;21 translocation. Hum Genet 1977;38:245-8.
6. Bianchi GP, Cantone P, Dalprà, L, Simoni G. Trisomia parziale 9q: riscontro della sindrome in due sorelle. Minerva Pediatr 1986;38:109-14.
7. Yamamoto Y, Oguro N, Nara T, Horita H, Niitsu N, Imaizumi S. Duplication of part of 9q due to maternal 12;9 inverted insertion associated with pyloric stenosis. Am J Med Genet 1988;31:379-84.
8. Naritomi K, Izumikawa Y, Goya Y, Gushiken M, Shiroma N, Hirayama K. Trisomy 9q3 syndrome: a case report and review of the literature. Clin Genet 1989;35:293-8.
9. Hou JW, Wang TR. Molecular cytogenetic studies of duplication 9q32-q34.3 inserted into 9q13. Clin Genet 1995;48: 148-50.
10. Nakahori Y, Nakagome Y. A malformed girl with duplication of chromosome 9q. J Med Genet 1984;21:387-8.
11. Smart RD, Viljoen DL, Fraser B. Partial trisomy 9 - further delineation of the phenotype. Am J Med Genet 1988;31: 947-51.
12. Sutherland GR, Carter RF, Morris LL. Partial and complete trisomy 9: delineation of a trisomy 9 syndrome. Hum Genet 1976;32:133-40.
13. Faed M, Robertson J, Brown S, Smail PJ, Muckhart RD. Pure partial trisomy for the long arm of chromosome 9, J Med Genet 1976;13:239-42.
14. Stalker HJ, Aymé S, Delneste D, Scarpelli H, Vekemans M, Der Kaloustian VM. Duplication of 9q12-q33: a case report. Am J Med Genet 1993;45:456-9.
15. Luke S, Verma RS, PeBenito R, Macera MJ. Inversion-duplication of bands q13→q12 of human chromosome 9. Am J Med Genet 1991;40:57-60.
16. Spinner NB, Lucas JN, Poggensee M, Jaquette M, Schneider A. Duplication 9q34→qter identified by chromosome painting. Am J Med Genet 1993;45:609-13.
17. Mattina T, Pierluigi M, Mazzone D, Scardilli S, Perfumo C, Mollica F. Double partial trisomy 9q34→qter and 21pter→q22.11: FISH and clinical findings. J Med Genet 1997;34:945-8.
18. Hübler A, Seidel J, Kauf E, Schramm D, Beensen V, Heller A, Liehr T, Zintl F. Insulin-like growth factor serum concentrations reflect insufficient growth in a hypoplastic infant with partial trisomy 9q in 12th week of life. J Pediatr Endocrinol Metab (in press).
19. Senger G, Chudoba I, Plesch A. Multicolor-FISH - the identification of chromosome aberrations by 24 colors. BIOforum 1998;9:499-503.
20. Liehr T, Thoma T, Kammler K, Gehring C, Ekici A, Bathke KD, Grehl H, Rautenstrauss B. Direct preparation of uncultured EDTA-treated or heparinized blood for interphase FISH analysis. Appl Cytogenet 1995;21:185-8.
21. Chudoba I, Henn TK, Senger G, Claussen U, Haas OA. Comparative genomic hybridization using DOP-PCR amplified DNA from a small number of nuclei. J Pediatr 1997;7:519-21.
22. Samonte RV, Conte RA, Ramesh KH, Verma RS. Molecular cytogenetic characterization of breakpoints involving pericentric inversions of human chromosome 9. Hum Genet 1996;98:576-80.
23. Park JP, Wojiski SA, Spellman RA, Rhodes CH, Mohandas TK. Human chromosome 9 pericentric homologies: implications for chromosome 9 heteromorphisms. Cytogenet Cell Genet 1998;82:192-4.
24. Reiter LT, Liehr T, Rautenstrauss B, Robertson HM, Lupski JR. Localization of Mariner DNA transposons in the human genome by PRINS. Genome Res (in press).
25. Mitchell LE, Risch N. The genetic of infantile hypertrophic pyloric stenosis: a reanalysis. Am J Dis Child 1993;147: 1203-11.
26. Fried K, Aviv S, Nisenbaum C. Probable autosomal dominant infantile pyloric stenosis in a large kindred. Clin Genet 1981;20:328-30.