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DGAP Case # 174
NIGMS CCR Cell Line #
Karotype46,XY,t(1;3)(p22;q21)
Age6 years
Phenotypic Sexmale
RaceWhite (not of Hispanic origin)
PhenotypeOvergrowth (weight, height and head circumference greater than 95th percentile), asymmetry (subtle right-side greater than left hemihypertrophy with right-sided facial fullness, right-sided chest fullness, slight right-sided pectoral fullness, posterior thorax has greatest fullness, right-sided abdominal fullness), small apical VSD and current heart murmur, metopic craniosynostosis and hydrocephalus, Arnold Chiari II malformation, agenesis of the corpus callosum, dysplasia of the left temporal lobe, scoliosis (maternal grandmother affected), developmental delay, behavioral problems, attention defecit hyperactivity disorder, increased red blood cell size, "vitamin deficiency", asthma and seasonal allergies, left inguinal hernia that was surgically repaired, dysmorphism including bilateral epicanthal folds, slight occasional esotropia, high-arched palate, left-sided head tilt, unsteady gait and uncoordinated movements with decreased balance.
PubMed Link PMID: 17530927
Detailed Summary PDF
Contact Investigator Richard Maas
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