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

Journal Article · Tue Feb 15 04:00:00 EST 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320490415· OSTI ID:95929

Sawai, Tomoko; Yoshimoto, Masaaki; Kinoshita, Ei-ichi; Baba, Tsuneyoshi; Matsumoto, Tadashi; Fukuda, Shinpei ^[1]; Harada, Naoki ^[2]

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1. Ohmura Municipal Hospital, Ohmura (Japan)
2. 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, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 49; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ANEUPLOIDY
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
HUMAN CHROMOSOME 21
HUMAN X CHROMOSOME
HUMAN Y CHROMOSOME
MALE GENITALS