Article
Phenotypic variability in the chromosome 9 ring.
Acta bio-medica de L'Ateneo parmense : organo della Societa di medicina e scienze naturali di Parma - 1 Jan 1997
Cavaliere M L, Rinaldi M M, Castelluccio P, Cioffi C, Vendemmia M, Vendemmia S
Abstract excerpt
The syndrome associated to the 9 ring is not commonly observed. The first remark was by Kistenmacher (1970) who examined a male. Later observation of other cases has allowed the syndrome to be described, so that it can be said to be characterized by constant signs, such as microcephaly, psychomotor retardation of varying entity and facial dysmorphism corresponding to that observed in 9 p monosomy. The variability...
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