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DGAP Case # 096
NIGMS CCR Cell Line #
Karotype46,XY,t(3;7)(q23;p15.3),inv(10)(p11.23q25.3)
Age2 yrs
Phenotypic Sexmale
RaceWhite (not of Hispanic origin)
PhenotypeBrachycephaly, deep set eyes, epicanthal folds, large mouth, short nose, large ears, hypoplastic nasal root, short fingers, bilateral hydroceles, umbilical hernia, peripheral hypertonia, astrocytoma
PubMed Link
Detailed Summary PDF
Contact Investigator Cynthia Morton
Other Data