Case of 46,XX/47,XY, + 21 chimerism in a newborn infant with ambiguous genitalia

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Abstract
We describe whole‐body chimerism in a newborn infant with small phallus, pseudo‐vaginal perineal hypospadias, and a bifid scrotum containing gonads. The human testis determining factor gene (SRY) was detected by PCR amplification. GTG‐banding chromosome analysis in peripheral blood lymphocytes and cultured fibroblasts derived from right cubital skin showed a 46,XX/47,XY, + 21 karyotype. Their ratios in each cell line were 294:5 and 178:7, respectively. QFQ‐banding chromosome analysis documented 3 heteromorphic statellites on trisomic chromosomes 21 in the 47,XY, + 21 cell line and a homozygous statellite pattern in the 46,XX cell line. Heteromorphic patterns of chromosomes 4, 13, 14, and 22 were also different between the two cell lines. To our knowledge, such disomy/trisomy chimeras have not been described previously.