De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism.
De novo translocation (2;18)(q21;q22) in a patient with severe epilepsy developmental delay and mild dysmorphism: We report on a patient presenting with severe epilepsy, hypotonia, developmental delay, blepharophimosis, low-set ears, camptodactyly and tapering fingers, and cutaneous syndactyly of toes II and III of the right foot. The MRI showed some loss of volume of the white matter and delayed myelination, no other specific anomalies were present. Chromosome analysis revealed a translocation involving chromosomes 2 and 18, which was characterized further by FISH using band-specific probes. The possibility of a submicroscopic deletion is discussed and the patient is compared with patients reported in the literature with either 2q21 or 18q22 deletion.
Bal
M
M
Department of Molecular Cell Biology and Genetics, University Maastricht, The Netherlands.
Schrander-Stumpel
C T
CT
Meers
L E
LE
Theunissen
P M
PM
Hamers
A J
AJ
Wennekes
M J
MJ
Engelen
J J
JJ
D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics*; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D012720:Severity of Illness Index; D014178:Translocation, Genetic / Q000235:genetics*