A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22.
We report on a case of "de novo" interstitial duplication of bands 2p21-22 in a 31-month-old female with mild mental retardation and dysmorphism. Cytogenetic investigations were performed on peripheral blood by adding 5-BrdU and 5-FdU. Measurements of enzymatic activity of malate dehydrogenase, whose gene has been mapped on the band 2p23, added reliability to the identification of bands 2p21-22 as the duplicated segment. The authors suggest that the duplication of this segment is able to cause the clinical picture of the syndrome of partial 2p trisomy.
Parruti
G
G
University of Chieti, Italy.
Di Ilio
C
C
Calabrese
G
G
Stuppia
L
L
Guanciali Franchi
P
P
Aceto
A
A
Palka
G
G
D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding; D002889:Chromosomes, Human, Pair 2; D004423:Ear / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D014314:Trisomy