-transparent.png){kind=logo}
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.
T Sawai, and
M Yoshimoto, and
E Kinoshita, and
T Baba, and
T Matsumoto, and
Y Tsuji, and
S Fukuda, and
N Harada, and
N Niikawa
August 2020,
Journal of human genetics,
T Sawai, and
M Yoshimoto, and
E Kinoshita, and
T Baba, and
T Matsumoto, and
Y Tsuji, and
S Fukuda, and
N Harada, and
N Niikawa
August 2006,
Journal of the Formosan Medical Association = Taiwan yi zhi,
T Sawai, and
M Yoshimoto, and
E Kinoshita, and
T Baba, and
T Matsumoto, and
Y Tsuji, and
S Fukuda, and
N Harada, and
N Niikawa
September 2012,
BMC medical genetics,
T Sawai, and
M Yoshimoto, and
E Kinoshita, and
T Baba, and
T Matsumoto, and
Y Tsuji, and
S Fukuda, and
N Harada, and
N Niikawa
January 2015,
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation,
T Sawai, and
M Yoshimoto, and
E Kinoshita, and
T Baba, and
T Matsumoto, and
Y Tsuji, and
S Fukuda, and
N Harada, and
N Niikawa
January 2009,
Annals of the New York Academy of Sciences,
T Sawai, and
M Yoshimoto, and
E Kinoshita, and
T Baba, and
T Matsumoto, and
Y Tsuji, and
S Fukuda, and
N Harada, and
N Niikawa
March 2023,
Journal of pediatric genetics,
T Sawai, and
M Yoshimoto, and
E Kinoshita, and
T Baba, and
T Matsumoto, and
Y Tsuji, and
S Fukuda, and
N Harada, and
N Niikawa
October 1992,
Journal of the Medical Association of Thailand = Chotmaihet thangphaet,
T Sawai, and
M Yoshimoto, and
E Kinoshita, and
T Baba, and
T Matsumoto, and
Y Tsuji, and
S Fukuda, and
N Harada, and
N Niikawa
January 2002,
American journal of medical genetics,
T Sawai, and
M Yoshimoto, and
E Kinoshita, and
T Baba, and
T Matsumoto, and
Y Tsuji, and
S Fukuda, and
N Harada, and
N Niikawa
January 1980,
Human genetics,
T Sawai, and
M Yoshimoto, and
E Kinoshita, and
T Baba, and
T Matsumoto, and
Y Tsuji, and
S Fukuda, and
N Harada, and
N Niikawa
January 1967,
Sangre,
