De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder.
De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder.
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DOI：
10.1155/2008/231904
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发表时间：
2008
影响因子：
--
通讯作者：
Chaabouni, Habiba
中科院分区：
文献类型：
--
作者：
Bayou, Nadia;M'rad, Ridha;Belhaj, Ahlem;Daoud, Hussein;Ben Jemaa, Lamia;Zemni, Ramzi;Briault, Sylvain;Helayem, M. Bechir;Chaabouni, Habiba
自闭症人群中新发染色体畸变的高发生率表明，某些染色体畸变与孤立的特发性自闭症的发生之间存在因果关系。我们报告了一名男性自闭症患者的临床和细胞遗传学发现，无身体异常和新生平衡（7;16）（p22.1;p16.2）易位。用g带染色体和荧光原位杂交（FISH）检测患者及其父母的核型。FISH与特定的RP11-BAC克隆定位在7p22.1和16p11.2附近，用于细化断点的位置。据我们所知，这是第一个关于自闭症患者和这种特殊染色体畸变的报告。
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.
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影响因子：
3.9
作者：
Gillberg, C
通讯作者：
Gillberg, C
影响因子：
9.8
作者：
Hallmayer, J;Glasson, EJ;Risch, N
通讯作者：
Risch, N
影响因子：
0.9
作者：
Wassink, TH;Piven, J;Patil, SR
通讯作者：
Patil, SR
影响因子：
4.4
作者：
Sultana, R;Yu, CE;Villacres, EC
通讯作者：
Villacres, EC
影响因子：
4
作者：
Finelli, P;Natacci, F;Larizza, L
通讯作者：
Larizza, L