Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation.
Constitutional interstitial deletions of 5q are uncommon. The corresponding phenotype is not well defined. But severe mental retardation seems to be a consistent manifestation. We describe a 4-year-old girl with a de novo deletion of 5q33.3q35.1 presenting only with mild psychomotor delay, minor facial anomalies, and seizures.
Spranger
S
S
Center for Human Genetics and Genetic Counselling, University of Bremen, Germany. spranger@uni-bremen.de
Rommel
B
B
Jauch
A
A
Bodammer
R
R
Mehl
B
B
Bullerdiek
J
J
D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D008297:Male