A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity.
Emberger
W
W
Petek
E
E
Plecko-Starting
B
B
Kroisel
P M
PM
Zierler
H
H
Wagner
K
K
D000328:Adult; D017668:Age of Onset; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009128:Muscle Spasticity / Q000235:genetics*; D011596:Psychomotor Disorders / Q000235:genetics