[Molecular-cytogenetic identification of partial trisomy of a short arm of chromosome 8].
We present de novo diagnosed case of partial trisomy of short arm of chromosome 8 with psyhomotoric delay and microanomalies. Inverted duplication of short arm of chromosome 8 was identified using molecular-cytogenetic method. This case is compared with literature data on the same cases. The further intensive study of such cases is necessary to delineate this chromosomal syndrome
Zerova-Liubimova
T E
TE
Rigel
M
M
Smul'skaia
N A
NA
Evseenkova
E G
EG
Gorovenko
N G
NG
Shintzel
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D014314:Trisomy / Q000235:genetics*