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Maternal uniparental disomy of chromosome 1
Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Delayed closure of the anterior fontanelle
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
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