De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder.
The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced (7;16)(p22.1;p16.2) translocation. G-banded chromosomes and fluorescent in situ hybridization (FISH) were used to examine the patient's karyotype as well as his parents'. FISH with specific RP11-BAC clones mapping near 7p22.1 and 16p11.2 was used to refine the location of the breakpoints. This is, in the best of our knowledge, the first report of an individual with autism and this specific chromosomal aberration.
Bayou
Nadia
N
Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis, 15 rue Djebel Lakhdhar La Rabta, Tunis 1007, Tunisia.
M'rad
Ridha
R
Belhaj
Ahlem
A
Daoud
Hussein
H
Ben Jemaa
Lamia
L
Zemni
Ramzi
R
Briault
Sylvain
S
Helayem
M Bechir
MB
Chaabouni
Habiba
H
D000015:Abnormalities, Multiple; D016080:Arachnoid Cysts; D001321:Autistic Disorder / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002653:Child Behavior Disorders; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D022202:Chromosomes, Artificial, Bacterial; D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure*; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D002946:Cisterna Magna / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011596:Psychomotor Disorders; D014178:Translocation, Genetic