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Dgap Case Number:
v
Basic Information
Publications
Images
NIGMS ID:


De Novo:
yes

Cytogenetic Rearrangement Type Code:
inversion

Original Karyotype:
46,XX,inv(2)(p11q13)

Revised Karyotype:


Sequence Karyotype:


Genetic Sex:
female

Phenotypic Sex:
female

Age:
3 yrs in 1999

Ethnicity:
Not Hispanic or Latino

Race:
White

Phenotype Description Text Summary:
Aqueductal stenosis (hydrocephalus, absent septum pellucidum, dysgenesis of posterior corpus callosum, dolicocehaly, fibrotic, but not entirely closed anterior fontanelleat 19 mos); partial complex seizures; facial dysmorphism: high forehead and prominent occiput, short nose with upturned-nares, epicanthal folds, large mouth, somewhat elongated philtrum and thin upper lip, broad nasal bridge, mild bilateral ptosis; developmental delay; temper tantrums and episodes of head-banging (19 mos).

Project Contact Person:
Unassigned