Expansion of the deletion 13q syndrome phenotype: a case report.
The phenotypic description of deletion 13q syndrome is dependent on the location and size of the deleted segment. At present, the syndrome is divided into 3 groups based on the deletion's location relative to chromosomal band 13q32. Groups 1 (proximal to q32) and 2 (including q32) have shown distinctive phenotypes including mental retardation and growth deficiency, whereas group 3 (q33-34 deletion) is defined by the presence of mental retardation but usually the absence of major malformations. The authors report an 8-year-old Hispanic female with dysmorphic facial features, microcephaly, moderate to severe mental retardation, and uncontrolled epilepsy associated with a terminal 13q33.3 deletion. These features expand the characterization of the phenotype associated with group 3 of the 13q deletion syndrome to include major clinical manifestations. This case report will contribute to more accurate genetic counseling as well as may help identify more individuals with this syndrome.
Lance
Eboni I
EI
Department of Neurosciences, Medical University of South Carolina, Charleston, SC, USA.
DuPont
Barbara R
BR
Holden
Kenton R
KR
D001921:Brain / Q000002:abnormalities / Q000503:physiopathology; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005145:Face / Q000002:abnormalities; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D007738:Kyphosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009421:Nervous System Malformations / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype; D011237:Predictive Value of Tests; D012886:Skull / Q000002:abnormalities; D013577:Syndrome