ELECTRONIC LETTER

FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour

P Finelli^1,2, F Natacci^3,4, M T Bonati^1,5, G Gottardi¹, J J M Engelen⁶, C E M de Die-Smulders⁶, M Sala³, D Giardino¹, L Larizza^1,2

¹ Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy
² Department of Biology and Genetics, University of Milan, Milan, Italy
³ Foundation Institute Sacra Famiglia, Cesano Boscone, Italy
⁴ Medical Genetics Service, Istituti Clinici di Perfezionamento, Milan, Italy
⁵ Clinic of Medical Genetics, Istituto Auxologico Italiano, Milan, Italy
⁶ Research Institute Growth and Development, Department of Clinical Genetics, University Maastricht, The Netherlands

Correspondence to:
Correspondence to:
P Finelli PhD
Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milano, Italy; finelli@auxologico.it

Abbreviations: FISH, fluorescence in situ hybridisation

Keywords: autism; dup(16)(p11.2p12.2); duplicons; FISH

The first 150 words of the full text of this article appear below.

Partial trisomy 16p is a rare chromosomal anomaly in newborns: of the fewer than 30 carrier patients so far reported, most were born to parents with a balanced translocation involving the p arm of chromosome 16.¹

Pure partial trisomy 16p has been reported in seven patients,^2–6 three of whom (all showing behavioural problems with autistic traits) carried a tandem duplication of the (16)(p11.2–p12) region^4,6; minor dysmorphisms were reported in only one patient.⁴

Linkage studies indicated chromosome 16p as a major location for autism susceptibility genes,⁷ while association was reported between autistic traits and attention deficit or hyperactivity disorders mapping to the 16p13 band.⁸ In addition TSC2, one of the genes responsible for tuberous sclerosis, a syndrome often associated with autistic traits, maps to the same cytogenetic band.⁹

We report the clinical phenotype and refined molecular cytogenetic characterisation of a patient carrying a (16)(p11.2p12.2) duplication. By extending the FISH analysis . . . [Full text of this article]

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