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Case Reports
. 1996 Jul;33(7):625-7.
doi: 10.1136/jmg.33.7.625.

A mild phenotype associated with der(9)t(3;9) (p25;p23)

R J McClure  1 , N Telford, S J Newell
Affiliations
Case Reports

A mild phenotype associated with der(9)t(3;9) (p25;p23)

R J McClure et al. J Med Genet. 1996 Jul.

Abstract

A female infant is described with hypoglycaemia, hypotonia, obesity of the trunk and thighs, and mild dysmorphic features. Growth parameters were consistently above the 90th centile. Chromosome analysis showed her to have a derived chromosome 9 inherited from a maternal t(3;9)(p25;p23) by adjacent I segregation. She had features in common with both the dup(3p) and del(9p) syndromes. There are few reports of this chromosome rearrangement and the features are milder than expected for the degree of imbalance, complicated in males by sex reversal. The repeated reports of macrosomia may suggest an overgrowth syndrome.

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