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Holoprosencephaly in a newborn girl with 46,XX,i(18q)
N B Spinner1, D L Eunpu, J R Austria
1Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141.
American Journal of Medical Genetics
|April 1, 1991
Abstract:
We report on a newborn girl with holoprosencephaly, microcephaly, absent right radius, and other anomalies with an 46,XX,i(18q) chromosome constitution. This is the first report of an i(18q) in syndromal alobar holoprosencephaly.