Trisomy   Maternal     Paternal   References  MI MII MI or MII Mitotic Totala MI MII MI or MII Mitotic Totala    2   4 1  6 1  13 5     5 [30]  7   2…

Fig. 7.1 Multiprep robotic harvester. This device was designed specifically for cytogenetics laboratories, with enhancements such as automatic fixative mixing, integral fume extraction, multiple dispensing, and aspiration probes to reduce…

Type of abnormality Total abnormalities (%) Sex chromosomes, males 47,XYY  45 (0.103) 47,XXY  45 (0.103) Other  32 (0.073) Sex chromosomes, females 45,X 6 (0.024) 47,XXX  27 (0.109) Other 9 (0.036)…

Fig. 10.1 Idiograms of the X and Y chromosomes showing the pseudoautosomal regions (PAR1 and PAR2), the locations of the X-inactive-specific transcript (XIST) gene, the critical region on Xq, the…

Fig. 5.1 Conjugate planes in the optical microscope (cutaway). In this cutaway of a modern microscope, “image” planes are marked in black while “aperture” planes are marked in red, denoting…

Overview of cell culture and harvest Culture initiation → Culture maintenance → Cell harvest Living cells→ Sterility→ Arrest division Sterility→ Optimal temperature→ Swell cells Proper growth medium→ Optimal pH→ Fix…

Name Location Type FRAXA Xq27.3 Rare FRAXB Xp22.31 Common FRAXC Xq22.1 Common FRAXD Xq27.3 Common FRAXE Xq28 Rare FRAXF Xq28 Rare Fig. 19.1 Appearance of FRAXA. (a) Conventional stain (Giemsa)…

Fig. 20.1 Diagrammatic representation of the imprinting process. Light-colored circles represent undermethylated genes, dark-colored circles represent hypermethylated genes. m maternally derived chromosome, pink. p paternally derived chromosome, blue. See text…

Fig. 11.1 Flow diagram for the workup of a woman with delayed puberty (Courtesy of Dr. Lawrence Layman.) PCOS polycystic ovary syndrome, CAIS complete androgen insensitivity syndrome, FSH follicle-stimulating hormone,…