Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardation and displ...

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Bibliographic Details
Published in:American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2006-09, Vol.141B (6), p.584-590
Main Authors: Di Bella, Maria Antonietta, Calì, Francesco, Seidita, Gregorio, Mirisola, Mario, Ragusa, Angela, Ragalmuto, Alda, Galesi, Ornella, Elia, Maurizio, Greco, Donatella, Zingale, Marinella, Gambino, Giovanna, D'Anna, Rosalba P., Regan, Regina, Carbone, Maria Carmela, Gallo, Alessia, Romano, Valentino
Format: Article
Language:English
Subjects:
Adolescent
Adult
autism
Autistic Disorder - genetics
Biological and medical sciences
Child
Child clinical studies
Chromosome aberrations
Chromosomes, Human, Pair 13
Developmental disorders
Female
frontal bossing
Gene Dosage
Humans
In Situ Hybridization, Fluorescence
Infantile autism
Male
Medical genetics
Medical sciences
Polymerase Chain Reaction
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Telomere
Translocation, Genetic
Trisomy
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Summary:Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardation and displays several dysmorphic features. Further FISH analyses revealed that the trisomy was caused by the translocation of a 13q subtelomeric fragment to the acrocentric tip of one chromosome 21 [46,XY.ish der(21) t(13;21) (q34;p13)(D13S1825+)]. Gene dosage experiments carried out with three multiallelic polymorphisms of the subtelomeric region of chromosome 13q showed that the putative length of the triplicate region does not exceed 300 kb about, that is, the distance from telomere to the first normally inherited marker. In addition, gene dosage analysis performed on the derivative chromosome 21, did not reveal loss of the most telomeric protein‐encoding genes on 21p. The potential relationship between a postulated increased expression of genes on 13q34 and the complex phenotype in this trisomic patient is discussed. © 2006 Wiley‐Liss, Inc.
ISSN:1552-4841
1552-485X
DOI:10.1002/ajmg.b.30328