SummaryThe results of chromosome studies on cultured umbilical cord blood lymphocytes from a consecutive series of 14,835 liveborn infants (7,608 males and 7,227 females) are described. Ninety-three infants (6.27 per 1,000) had a m~or chromosome abnormality. Of these, thirtyone infants (2.09 per 1,000) had sex chromosome abnormalities. Seven male infants had a 47,XXY karyotype, five had a 47,XYY karyotype, and three were mosaics. One male had a ring Y chromosome in all cells examined. A pericentric inversion of the Y chromosome was found in one case. Seven female infants had a 47,XXX karyotype, one had a 45,X karyotype and six were mosaics. Sixty-two infants (4.18 per 1,000) had autosomal abnormalities. There were twenty-one infants with trisomy 21 including one mosaic, six infants with trisomy 18, and two infants with trisomy 13 of a Robertsonian translocation type. Three infants had an unbalanced derivative chromosome resulting from a parental reciprocal translocation. Two infants with a partial monosomy of chromosome 13 were detected. There were four infants carrying an additional small marker chromosome. Twenty-four infants (1.62 per 1,000) had a balanced structural rearrangement of the autosomes; eleven with a Robertsonian translocation, eleven with a reciprocal translocation, and two with a pericentric inversion. The incidence of each type of major chromosome abnormality in this study was quite similar to that obtained from previous newborn surveys. Key Words chromosome abnormality, cytogenetic survey, newborn populationReceived December 21, 198921, ." revised version received February 7, 1991 Accepted February 8, 1991, 117 118 T. MAEDA et al.
We determined HLA-DRB types of 375 randomly chosen healthy Japanese donors using a set of 29 different sequence-specific oligonucleotide (SSO) probes directed against various DRB alleles. Except for a few cases, these SSOs enabled us to identify 33 different DRB types including those detectable only by SSO genotyping. Gene frequencies were calculated for each of the DRB types identified. The "blank" frequency calculated by our SSO typing was essentially zero, in contrast to the considerably high "blank" frequencies reported at serological HLA-DR or cellular HLA-D workshops. This indicates that almost all of the DRB types in the Japanese population are positively detectable by our SSO typing. By comparing the gene frequencies for each of the DR types obtained by our SSO typing with those obtained by immunological typing at workshops, significant differences were observed for several of the DR types.
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