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Molecular studies in three patients with isodicentric Y chromosome
L Stuppia1, G Calabrese, P G Franchi
1Istituto di Citomorfologia Normale e Patologica del CNR, Chieti, Italy.
Human Genetics
|December 1, 1996
Abstract:
Three patients carrying an isodicentric (idic) Y chromosome associated with a mosaic 45,X cell line were studied using molecular techniques. Genotype-phenotype correlations suggested an effect of the 45,X cell line on sexual differentiation. A relationship was established between instability of the idic(Y) chromosome and localization of the breakpoint on Yq, and between azoospermia and deletion of interval 6 on Yq.