Infant with mos45,X/46,XY/47,XYY/48,XYYY: Genetic and clinical findings
- North Shore Univ. Hospital, Manhasset, NY (United States); and others
We describe an infant with mos45,X/46,XY/47,XYY/48,XYYY who presented with ambiguous genitalia. Her phenotype was also remarkable for minor ear and eye anomalies and coarctation of the aorta with bicuspid aortic valve. Laparoscopy revealed bilateral Fallopian tubes and a left infantile testis with epididymis. Chromosomal analyses of blood, skin, aorta, right Fallopian tube, and left gonadal tissue showed mos 45,X46/XY/47,XYY/48,XYYY. The 46,XY cell line was identified with routine trypsin Giemsa banding only in cultured cells from an aortic biopsy. Fluorescence in situ hybridization (FISH) was utilized to identify the presence of 46,XY cells in other tissues. The clinical manifestations of this patient are discussed and compared with those of similar cases of Y chromosome aneuploidy. To our knowledge, this is the first report of a patient with this unusual karyotype. 14 refs., 1 fig., 2 tabs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 443760
- Journal Information:
- American Journal of Medical Genetics, Vol. 59, Issue 4; Other Information: PBD: 4 Dec 1995
- Country of Publication:
- United States
- Language:
- English
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