Partial trisomy 8q and partial monosomy 18p: A case report

Annales de Genetique

Volumn 47, Issue 4, 2004, Pages 399-403

  Puvabanditsin, S ^a,b   Garrow, E ^a   Rabi, F A ^b   Titapiwatanakun, R ^b   Kuniyoshi, K M ^b  

^a UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

^b JERSEY CITY MEDICAL CENTER   (United States)

Author keywords

Chromosome anomaly; Newborn; Partial monosomy 18p; Partial trisomy 8q

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 18; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DISORDER; CLINICAL FEATURE; HUMAN; MALE; NEWBORN; PARTIAL MONOSOMY 18P; PARTIAL TRISOMY 8Q; PHENOTYPE; WARKANY SYNDROME;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; HUMANS; INFANT; KARYOTYPING; MALE; MONOSOMY; MOTHERS; TRISOMY;

EID: 9644257224     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.anngen.2004.07.004     Document Type: Article

References (11)

1. J. Lejeune, M. Rethore, B. Dutrillaux, and G. Martin Translocation 8-22 sans changement de longueur et trisomie partielle 8q Exp. Cell Res. 74 1972 293 295
2. A. Schinzel Catalogue of unbalanced chromosome aberrations in man 2001 Walter de Gruyter Berlin, New York
3. S. Stengel-Rutkowski, K. Lohse, C. Herzog, C. Apacik, J. Couturier, and A. Albert Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk Clin. Genet. 42 1972 178 185
4. J. de Grouchy, M. Lamy, S. Theffry, M. Arthuis, and C. Salmon Dysmorphic complexe avec oligophrenie:deletion des bras courts d'un chromosome 18 C. R. Acad. Sci. III 256 1963 1028 1029
5. L. Taine, C. Goizet, Z.Q. Wen, J.F. Chateil, J. Battin, and R. Saura 18 p monosomy with midline defects and a de novo satellite identified by FISH Ann. Genet. 40 1997 158 163
6. P.L. Townes, and M.R. White Inherited partial trisomy 8q(22→qter) Am. J. Dis. Child. 132 1978 498 501
7. O. Sanchez, and J.J. Yunis Partial trisomy8(8q24) and trisomy 8 syndrome Hum. Genet. 23 1974 297 303
8. V.M. Riccardi, and B.F. Crandall Karyotyoe-phenotype correlations: mosaic trisomy 8 and partial trisomies of different segments of chromosome 8 Hum. Genet. 41 1978 363 367
9. R.M. Finneman, R.C. Ablow, W.R. Breg, S.D. Wing, J.S. Rose, and S.L.G. Rothman Complete and partial trisomy of different segment of chromosome 8: case reports and review Clin. Genet. 16 1979 390 398
10. E.S. Sachs, and G. Van Waveren Phenotype of partial trisomy 8(q21→qter) in two unrelated patients with de novo translocation J. Med. Genet. 18 1981 204 208
11. C.P. Chen, S.R. Chern, C.C. Wang W Lee, W.L. Chen, L.F. Chen, T.Y. Chang, and C.Y. Tzen Prenatal diagnosis of partial monosomy 18p (18p11.2→pter) and Trisomy 21q (21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis Prenat. Diagn. 21 2001 346 350