Case of 46,XX/47,XY, +21 chimerism in a newborn infant with ambiguous genitalia
- Ohmura Municipal Hospital, Ohmura (Japan)
- Kyushu Medical Science, Nagasaki (Japan)
The authors describe the 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 satellites on trisomic chromsomes 21 in the 47,XY,+21 cell line and a homozygous satellite pattern in the 46,XX cell line. Heteromorphic patterns of chromsomes 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. 10 refs., 3 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 95929
- Journal Information:
- American Journal of Medical Genetics, Vol. 49, Issue 4; Other Information: PBD: 15 Feb 1994
- Country of Publication:
- United States
- Language:
- English
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