Case of 46,XX/47,XY, +21 chimerism in a newborn infant with ambiguous genitalia.
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 satellites on trisomic chromosomes 21 in the 47,XY, +21 cell line and a homozygous satellite 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.
Sawai
T
T
Department of Pediatrics, Nagasaki University, School of Medicine, Japan.
Yoshimoto
M
M
Kinoshita
E
E
Baba
T
T
Matsumoto
T
T
Tsuji
Y
Y
Fukuda
S
S
Harada
N
N
Niikawa
N
N
D002478:Cells, Cultured; D002678:Chimera; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D004268:DNA-Binding Proteins / Q000235:genetics; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors