The cover image shows Results from the optimization phase on normal and trisomic samples (A–E): Uncultured amniocytes [(A)-XY; (B)-XX]; (C)-normal diploid 21; (D)trisomy 18; (E)trisomy 13; (F)trophoblast cells (normal diploid 13 and 21). (G, H) Mononuclear cells from fetal blood [(G)-XY; (H)-normal diploid 13 and 21]. (I) Cultured neonate peripheral blood cells in the metaphase and interphase of a DiGeorge patient showing deletion of TUPLE 1 locus on chromosome 22q11.2. (J) Mononuclear cell from fetal cord blood (trisomy 18). (K) Mononuclear cell from neonatal blood (trisomy 21). (L) Mononuclear cell of a Turner syndrome patient (45, XO). (M) Uncultured amniocyte (trisomy 21). (N) Uncultured amniocyte; Klinefelter syndrome (47, XXY). Interphase FISH of CEP and LSI probes on different cell types. Colours have been enhanced for ready recognition: CEP X (red); CEP Y (green); LSI 21 (yellow); CEP 18 (aqua); LSI 13 (purple); LSI TUPLE1 (HIRA) (3′ non-coding region of TUPLE1, D22S553, D22S609 and D22S942) (red); LSI ARSA (Arylsulfatase A gene) (green). (See Choolani et al., pp. 355-359).
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