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del(18p) syndrome with complex tetralogy of fallot in an infant with 45,X,t(Y;18)(q12;q11.2)

✍ Scribed by Kalla, S. El ;Mathews, A. R. ;Menon, N. S.

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
196 KB
Volume
42
Category
Article
ISSN
0148-7299

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An infant with a mosaic 45,X/46,X,psu dic(Y) (pter→q11.2:q11.2→pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads
✍ Reddy, K.S.; Sulcova, V.; Ho, C.K.; Conner, E.D.; Khurana, A. πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 444 KB πŸ‘ 1 views

An infant with mixed gonadal dysgenesis was found to have a 45,X/46Xpsu dic(Y) karyotype. A low level (8%) of mosaicism for the dic(Y) cell line was observed in peripheral blood lymphocytes and skin fibroblasts. The dicentric nature of the Y chromosome became apparent in fluorescence in situ hybridi