RT Journal Article
SR Electronic
T1 A mild phenotype associated with der(9)t(3;9) (p25;p23).
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 625
OP 627
DO 10.1136/jmg.33.7.625
VO 33
IS 7
A1 McClure, R J
A1 Telford, N
A1 Newell, S J
YR 1996
UL http://jmg.bmj.com/content/33/7/625.abstract
AB 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.