De novo duplication of chromosome 13(q32-q34) in a child with developmental delay.
We report the case of a child affected by a duplication of chromosome 13(q32-q34). This cytogenetic abnormality is rarely described in the literature. The description of our patient's characteristics might contribute to a better phenotype definition.
Milani
Donatella
D
Department of Pediatrics, Fondazione Ospedale Maggiore, Mangiagalli e Regina Elena, Milan, Italy.
D'Arrigo
Stefano
S
Guerneri
Silvana
S
Selicorni
Angelo
A
Riva
Daria
D
Pantaleoni
Chiara
C
D002869:Chromosome Aberrations / Q000196:embryology*; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005145:Face / Q000002:abnormalities; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009460:Neurologic Examination; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D012640:Seizures / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome