Summary
The patient displayed the clinical features consistent with tetrasomy (18p) syndrome, who had an extra small metacentric iso(18p) chromosome in otherwise normal karyotype. Identification of the marker chromosome used the chromosome 18 band-specific fluorescencein situ hybridization strategy.
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Callen DF, Freemantle CJ, Ringenbergs ML, Baker E, Eyre HJ, Romein D, Haan EA (1990): The isochromosome 18p syndrome: conformation of cytogenetic diagnosis in nine cases byin situ hybridization. Am J Hum Genet47: 493–498
Froland A, Holst G, Terslev E (1963): Multiple anomalies associated with an additional small metacentric chromosome. Cytogenetics2: 99–106
Heng HHQ, Tsui LC (1993): Modes of DAPI banding and simultaneousin situ hybridization. Chromosoma102: 325–332
Lichter P, Cremer T, Borden J, Manuelidis L, Ward DC (1988): Delineation of individual human chromosomes in metaphase and interphase cells byin situ suppression hybridization using recombinant DNA libraries. Hum Genet80: 224–234
Lin CC, Meyne J, Sasi R, Bowen P, Unger T, Tainaka T, Hadro TA, Hoo JJ (1990): Determining the origins and the structural aberrations of small marker chromosome 18p in two cases of 45,X/46,X,+mar by use of chromosome-specific DNA probes. Am J Med Genet37: 71–78
Mewar R, Harrison W, Overhauser J (1993): Conformation of isochromosome 18p using whole chromosome arm-specific fluorescencein situ hybridization. Cytogenet Cell Genet64: 1–4
Nakashima H, Sakai M, Inaba R, Imamura T (1993): Isolation and fluorescencein situ hybridization (FISH) mapping of 60 cosmid clones on the human chromosome 18. Genomics19: 577–580
Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J (1988): Fluorescencein situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA85: 9138–9142
Takahashi E-I, Yamauchi M, Tsuji H, Hitomi A, Meuth M, Hori T-A (1991): Chromosome mapping of the human cytidine-5′-triphosphate synthetase (CTPS) gene to band 1p34.1-p34.3 by fluorescencein situ hybridization. Hum Genet88: 119–121
Viegas-Pequignot E, Dutrillaux B (1978): Une methode simple pour obtenir des prophases et des prometaphases. Ann Genet (Paris)21: 122–125
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Nakashima, H., Hasegawa, T., Sakai, M. et al. Identification of iso(18p) marker chromosome by fluorescencein situ hybridization with single-copy DNA probe. Jap J Human Genet 40, 185–188 (1995). https://doi.org/10.1007/BF01883575
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DOI: https://doi.org/10.1007/BF01883575