A case of partial trisomy of chromosome 8p associated with autism.
We report on a case of a 6-year-old female with partial trisomy 8p(21-23) associated with autism, mild dysmorphic features, and moderate learning disability. Although mental retardation is a common finding in patients with mosaic trisomy 8 or partial trisomy of various regions of chromosome 8, only two cases associated with autism have been reported so far. Also, in our case clinical manifestations were mild compared to other patients with duplication of the same region of chromosome 8. Although there has been no strong evidence for linkage on chromosome 8 in any of the genome-wide linkage studies so far, the possibility that this segment includes genes involved in the etiology of autism should be further explored.
Papanikolaou
Katerina
K
Department of Child Psychiatry, University of Athens, Agia Sophia Children's Hospital, 115 27, Athens, Greece. apechlib@med.uoa.gr
Paliokosta
Elena
E
Gyftodimou
Jolanda
J
Kolaitis
Gerassimos
G
Vgenopoulou
Sofia
S
Sarri
Catherine
C
Tsiantis
John
J
D001321:Autistic Disorder / Q000235:genetics* / Q000523:psychology; D002648:Child; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D005260:Female; D020440:Gene Duplication; D006801:Humans; D011581:Psychological Tests; D014314:Trisomy / Q000235:genetics*