Partial trisomy 18q11.2→qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization

Annales de Genetique

Volumn 47, Issue 4, 2004, Pages 393-398

  Semerci, C Nur ^a   Bahce, Muhterem ^b   Atik, Fatih ^c   Candemir, Zuhal ^d   Kiraz, Isil Kucun ^d   Zorlu, Pelin ^c   Gül, Davut ^b  

^a PAMUKKALE UNIVERSITY   (Turkey)

^b GULHANE SCHOOL OF MEDICINE   (Turkey)

^c DR SAMI ULUS CHILDREN S HOSPITAL   (Turkey)

^d Zubeyde Hanim Maternity Hospital   (Turkey)

Author keywords

Chromosome 15; Chromosome translocation; Fluorescence in situ hybridization; Partial trisomy 18

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 15; CHROMOSOME 18; CHROMOSOME DISORDER; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COMPARATIVE STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; HUMAN; INFANT; MALE; PARTIAL TRISOMY 18Q11.2; PREGNANCY; PRENATAL DIAGNOSIS;

CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 18; FATAL OUTCOME; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 9644287917     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.anngen.2004.03.009     Document Type: Article

References (25)

1. Binkert F., Stranzinger J., Schinzel A. Partial trisomy of 18 (pter-q12) following a familial 18;21 translocation rep(18;21)(q21;q11). Hum. Hered. 40:1990;81-84
2. Blattner W.A., Kistenmacher M.L., Tsai S., Punnet H.H., Giblett E.R. Clinical manifestations of familial 13;18 translocation. J. Med. Genet. 17:1980;373-379
3. Bowen P., Pabst H., Berry D., Collins-Nakai R., Hoo J.J. Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement. Clin. Genet. 29:1986;174-177
4. Bugge M., Collins A., Petersen M.B., Fisher J., Brandt C., Hertz J.M., Tranebjaerg L., de Lozier-Blanchet C., Nicolaides P., Brondum-Nielsen K., Morton N., Mikkelsen M. Non-disjunction of chromosome 18. Hum. Mol. Genet. 7:1998;661-669
5. De Pater J.M., Smeets D.F.C.M., Scheres J.M.J.C. Unique mosaicism of structural chromosomal rearrangement: is chromosome 18 preferentially involved? Am. J. Med. Genet. 119A:2003;26-31
6. Elbistan M., Kucukoduc S., Kara N. Partial trisomy 18q. Indian J. Pediatr. 63:1996;393-396
7. Fryns J.P., Detavernier F., Fleteren A., Van den Berghe H. Partial trisomy 18q in a newborn typical 18 trisomy phenotype. Hum. Genet. 44:1978;201-205
8. Fukuhara K., Fukuhara K., Mino M., Kusunoki T., Misawa S., Morita M., Abe T. Partial 18 trisomy syndrome resulting from paternal 6/18 reciprocal translocation. Jpn. J. Hum. Genet. 24:1979;13-20
9. Hoo J.J. Critical segment for 9p deletion syndrome. Clin. Genet. 29:1986;541-542
10. Jones K.L. Recognizable Patterns of Human Malformation. 1997;W.B. Saunders Company, Philadelphia
11. Kameyama J., Tsurusawa M., Nakano H., Shimizu S., Okuda R., Morita M., Abe T. Trisomy for the long arm of the chromosome 18 due to de novo 18/21 translocation. Jpn. J. Hum. Genet. 22:1977;11-15
12. Krishnamurthy D.S., Patel Z.M., Ambani L.M. Trisomy 18q:46,XX,18q+, t(13;18)(q32;q11) in a newborn associated with multiple congenital anomalies due to paternal reciprocal translocation, 46,XY,-13,+der (13),t(13;18)(q32;q11). Clin. Genet. 18:1980;233-238
13. Matsuoka R., Matsuyama S., Yamamoto Y., Kroki Y., Matsui I. Trisomy 18q. A case report and review of karyotype-phenotype correlation. Hum. Genet. 57:1981;78-82
14. Mewar R., Kline A.D., Harrison W., Rojas K., Greenberg F., Overhauser J. Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18. Am. J. Hum. Genet. 53:1993;1269-1278
15. Muecke J., Trautmann U., Sanding K.-R., Theile H. The crucial band for phenotype of trisomy 18. Hum. Genet. 60:1982;205
16. Murthy S.K., Probhakara K., Krisnamurthy D.S. Trisomy 18q:46,XX,-10,+der(10)t(10;18)(p15;q12)pat: a case report. Ann. Genet. 25:1992;174-177
17. Neu R.L., Ortega C.C., Barg G.A., Pinto W., Gardener L.I., Howel W.M., Denton T.E. Inclusion of satellites in a 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18. J. Med. Genet. 13:1976;520-522
18. Rosenmann A., Isacson M., Cohen R., Segal M., Cohen M.M. Partial trisomy 18 (q11àqter) in an infant and aborted fetus resulting from a balanced paternal translocation t(13;18)(q32;q11). Ann. Genet. 21:1978;60-64
19. A. Schinzel, Catalogue of Unbalanced Chromosome Aberrations in Man, Walter de Gruyter. Berlin, 2001.
20. Slavotinek A., Poyser L., Wallace A., Martin F., Gaunt L., Kingston H. Two unique patients with trisomy 18 mosaicism and molecular marker studies. Am. J. Med. Genet. 117A:2003;282-288
21. Spinner N.B., Emanuel B.S. Deletions and other structural abnormalities of the autosomes. Rimoin D.L., Connor J.M., Pyeritz R.E. Emery and Rimoin's Principles and Practice of Medical Genetics, vol. I. 1997;999-1025 Churchill Livingstone, New York
22. Tayel S.M., Kurczynski T.W., Casperson S., McCorquodale M.M. Deletion 9p, duplication 18q in two sisters resulting from a maternal (9;18)(p22;q21.3) translocation. Am. J. Med. Genet. 31:1988;853-861
23. Turleau C., Chavin-Colin F., Narbouton R., Asensi D., de Grouchy J. Trisomy 18q-. Trisomy mapping of chromosome 18 revisited. Clin. Genet. 18:1980;20-26
24. Turleau C., de Grouchy J. Trisomy 18qter and trisomy mapping of chromosome 18. Clin. Genet. 12:1977;361-371
25. Wilson G.N., Heller K.B., Elterman R.D., Schneider N.R. Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18. Am. J. Med. Genet. 36:1990;506-510