Autism and hypoplastic corpus callosum in a case of monocentric marker chromosome 15.
An 8-year-old boy was diagnosed with autism, along with development delay, seizures, and hypoplastic corpus callosum. His karyotype was 47, XY, +mar.ish (15) (D15Z1+, SNRPN+, GABRB3+, PML-(de novo?). The supernumerary marker chromosome 15 with euchromatin was monosatellited and monocentric. Although autism, seizures, and mental and developmental retardation are not rare in association with a dicentric, bisatellited supernumerary marker chromosome 15, the present case is novel for a monocentric, monosatellited supernumerary marker chromosome 15 and the additional feature of hypoplastic corpus callosum. The present case provides support for the hypotheses that additional copies of different segments of proximal 15q are related to autism and to malformations of corpus callosum.
Jovanović-Privrodski
Jadranka D
JD
Institute for Children and Youth Health Care Vojvodina, Center for Medical Genetics, Medical Faculty, 21000 Novi Sad, Serbia. privrod@eunet.rs
Kavecan
Ivana I
II
Obrenović
Milan R
MR
Buonadonna
Lucia A
LA
Bukvić
Nenad M
NM
D061085:Agenesis of Corpus Callosum; D001321:Autistic Disorder / Q000150:complications / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D004200:Diseases in Twins; D005145:Face / Q000002:abnormalities; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009421:Nervous System Malformations / Q000150:complications / Q000235:genetics*; D012640:Seizures / Q000150:complications / Q000235:genetics
D005819:Genetic Markers