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DGAP Case # 106
NIGMS CCR Cell Line #
Karotype46,XX,t(3;5)(q27;q31.1), t(11;13)(p15.3;q14.1)
Age2 years
Phenotypic Sexfemale
RaceHispanic
PhenotypeDevelopmental delay (moderate global delay/mental retardation), behavioral issues including self-injurious actions (hits self with hands) and agitation (grinds teeth), failure to thrive and growth retardation (current weight < 5th percentile, length < 5th percentile, head circumference < 5th percentile), strabismus and ptosis. Normal MRI (04/11/02). At delivery fetal distress was noted which promted a C-section, positive for nuchal cord. Prenatal ultrasound noted a "short" fetus with what seemed to be a normal weight.
PubMed Link
Detailed Summary PDF
Contact Investigator James Gusella
Other Data