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

Valentino Romano, Maria Antonietta Di Bella, Gregorio Seidita, Mario Giuseppe Mirisola, Marinella Zingale, Angela Ragusa, Valentino Romano, Francesco Calì, Ornella Galesi, Alda Ragalmuto, Giovanna Gambino, Regina Regan, Donatella Greco, Maurizio Elia, Alessia Gallo, Antonella Ragusa, Filippo Cali', Maria Carmela Carbone, Rosalba D'Anna

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Abstract

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.
Lingua originaleEnglish
pagine (da-a)584-590
Numero di pagine7
RivistaAMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS
Volume141B
Stato di pubblicazionePublished - 2006

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All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

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Romano, V., Di Bella, M. A., Seidita, G., Mirisola, M. G., Zingale, M., Ragusa, A., Romano, V., Calì, F., Galesi, O., Ragalmuto, A., Gambino, G., Regan, R., Greco, D., Elia, M., Gallo, A., Ragusa, A., Cali', F., Carbone, M. C., & D'Anna, R. (2006). Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation. AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS, 141B, 584-590.