[Trisomy 21 and superoxide dismutase-1 (IPO-A). Tentative localization of sub-band 21Q22.1].
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Biomedical subjects
Publications and source records attributed to J Couturier.
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Acridine orange, coriphosphine, toluidin blue, or pyronin, when added to the hypotonic solution, allow G-banding when the fixed slides are stained in the usual way. Apart from this simple practical application, these modifications of chromatid structure by a treatment applied before fixation shed some light on the molecular mechanisms responsible for chromosome banding.
Four patients with a ring derived from chromosome n 22 - r(22)-are reported. The clinical syndrome is described, based on the description of these patients and ten others already reported in the litterature. The "doe's eye" anomaly appears to be the only morphological symptom of the disease. Mental retardation is pronounced and associated with disturbed equilibrium.
Chromosomal preparations obtained from lymphocytes and fibroblasts revealed a minor clone, 47,XX,+14, in a female newborn with multiple malformations. Other types of rearrangement of chromosome 14 are discussed.
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Pachytene analysis was carried out on an infertile man heterozygous for a pericentric inversion of chromosome 6. The synaptic behavior of the bivalent 6 inversion was analyzed using electron microscopy in silver stained surface microspread of the inversion-bearing spermatocytes. Possible mechanisms of the sterilizing effect caused by the autosomal inversion are discussed.