Cytogenetic Aberrations in Patients with Growth Retardation / 대한임상병리학회지

ABSTRACT

BACKGROUND: Growth retardation (GR) has literally hundreds of causes that have differences in prognoses, complications, and responses to treatments. Especially, growth retarded patients resulting from chromosomal disorders should be genetically counseled. To focus the cytogeneticist's attention on specific chromosomal regions, it is important to understand cytogenetic aberrations associated with GR prior to chromosomal analysis. So, we attempted to figure out the cytogenetic findings of patients with GR and support the effective application of cytogenetic studies, accurate diagnosis and genetic counseling. METHODS: Of 203 cases referred for GR, the positive rate and pattern of chromosomal aberrations were retrospectively analyzed with review of associated clinical features. Cytogenetic studies were performd by high resolution banding technique after peripheral T lymphocyte culture and, if necessary, Ag-NOR stain, C-banding and fluorescence in situ hybridization. RESULTS: Forty two (20.7%) patients had abnormal karyotypes. Thirty one (15.2%) patients had well-recognized chromosomal syndromes including Turner, Cri-du-chat, Edward, 13q- and 18p-/ 18q- syndromes. In addition to those, the sporadic chromosomal aberrations of 11 cases were partial monosomy of 11q23, partial trisomy of 1q32, 4p, 9p, and 14q, and ring chromosome 4 and 18, etc. which were not literally established in view of the correlation with phenotype. CONCLUSIONS: The various results of definite or debating chromosomal disorders associated with GR could be used as the data for diagnosis, management, prognosis, and genetic counseling in growth retarded patients. Furthermore, these may provide the background for prospective study to define the new chromosomal disorders.