Article
Tetrasomy 9p mosaicism associated with a normal phenotype.
Fetal diagnosis and therapy - 1 Jan 2000
McAuliffe Fionnuala, Winsor Elizabeth J T, Chitayat David
Abstract excerpt
Isochromosome (tetrasomy) 9p is a rare chromosomal aberration characterized by phenotypic abnormalities ranging from mild developmental delay to multiple anomalies including intrauterine growth retardation, cerebral ventriculomegaly, dysmorphic facial features, cleft lip or palate, abnormal genitalia and renal anomalies. We present a patient with isochromosome (tetrasomy) 9p mosaicism who is a healthy normal...
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