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

被引:12
作者
Di Bella, Maria Antonietta
Cali, 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
机构
[1] Univ Palermo, Dipartimento Biopatol & Metodol Biomed, I-90133 Palermo, Italy
[2] Univ Palermo, Ctr Interdipartimentale Ricerca Clin & Sperimenta, I-90133 Palermo, Italy
[3] IRCCS, Assoc OASI Maria SS, Troina, EN, Italy
[4] Osped Vittorio Emanuele, Lab Genet Umana, Catania, Italy
[5] PO Aiuto Materno, Palermo, Italy
[6] Wellcome Trust Res Labs, Ctr Human Genet, Oxford, England
关键词
autism; frontal bossing; gene dosage;
D O I
10.1002/ajmg.b.30328
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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,X-Y.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 telomerie 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. (c) 2006 Wiley-Liss, Inc.
引用
收藏
页码:584 / 590
页数:7
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