Article
Old syndromes and new cytogenetics.
Developmental medicine and child neurology - 1 Sept 1990
Punnett H H, Zakai E H
Abstract excerpt
This annotation has been confined to well-established clinical syndromes with recently discovered chromosomal etiologies. It deliberately omits retinoblastoma, the oft-cited paradigm of a contiguous gene syndrome, since it is usually inherited as a Mendelian single gene disorder. However, it was recognition of both the deletion of band q14 of chromosome 13 in mentally retarded children with retinoblastoma, and...
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