Brief Report: A Case of Autism with Interstitial Deletion of Chromosome 13

Margaret Mary Steele; Mohammed Al-Adeimi; Victoria Mok Siu; Yao-Shan Fan

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Brief Report: A Case of Autism with Interstitial Deletion of Chromosome 13

机译：简要报告：一例间质性删除染色体13。

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摘要

A case of an 18-year-old male who meets the DSM-IV criteria for autistic disorder and borderline intelligence is described. Cytogenetic evaluation revealed a karyotype of 46, XY, del(13)(q14q22). The relevance of this case to the etiology of autism is discussed.

机译：描述了一个符合DSM-IV自闭症和边缘智力的18岁男性的病例。细胞遗传学评估显示46，XY，del（13）（q14q22）的核型。讨论了这种情况与自闭症病因的关系。

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来源
《Journal of Autism and Developmental Disorders》 |2001年第2期|231-234|共4页
作者
Margaret Mary Steele; Mohammed Al-Adeimi; Victoria Mok Siu; Yao-Shan Fan;
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作者单位

London Health Sciences Centre;

Genetics Unit University of Aden;

London Health Sciences CentreDepartment of Pediatrics University of Western Ontario;

London Health Sciences CentreDepartment of Pathology University of Western Ontario;

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原文格式 PDF
正文语种 eng
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关键词
Autism; chromosome 13;

机译：自闭症;染色体13;

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1. Umbilical cord ulceration after prenatal diagnosis of duodenal atresia with interstitial deletion of chromosome 13q: a case report. [J] . Miyake H, Yamamoto A, Yamada T, Fetal diagnosis and therapy . 2008,第2期

机译：产前诊断十二指肠闭锁伴间质性染色体13q缺失的脐带溃疡：1例。
2. Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review. [J] . van-Bon BW, Koolen DA, Feenstra I, Clinical dysmorphology . 2007,第4期

机译：17.5 Mb间质缺失13号染色体（q14.3q21.33）的患者身材高大和面部面部畸形少：临床报告和评论。
3. Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits. [J] . Smith M, Woodroffe A, Smith R, Cytogenetic and genome research . 2002,第4期

机译：自闭症和听觉处理缺陷患者的13q12-> q13染色体缺失的分子遗传学描述。
4. Chromosome Deletions and Translocations of Chinese Spring-E. elongata 6E Disomic Addition Induced By Ae. cylindrica Gametocidal Chromosome 2C [C] . ZHAO Li-juan, LI Ji-lin, ZHANG Yue-xue International Agro-Biotechnology Conference; 2005; Heilongjiang(CN) . 2005

机译：中国Spring-E的染色体缺失与易位。 ae诱导的elongata 6E二体加成。 cylindrica杀螨染色体2C
5. Coordinate interstitial deletions of retinoblastoma (RB1) and neurobeachin (NBEA) genes on chromosome 13 in MGUS and multiple myeloma. [D] . O'Neal, Julie. 2009

机译：MGUS和多发性骨髓瘤中13号染色体上的视网膜母细胞瘤（RB1）和神经沙滩蛋白（NBEA）基因的间质性缺失。
6. Interstitial deletion of the long arm of chromosome 18 del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype. [O] . A Schinzel, F Binkert, D M Lillington, 1991

机译：间质性删除第18号染色体的长臂del（18）（q12.2q21.1）：报告3例具有轻度表型的常染色体缺失。
7. The first reported case of the DRAGON gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5q15-21.1 [O] . Chitayat D, Brenner G, Chung BHY, 2009

机译：首次报道了人类DRaGON基因缺失的病例。具有染色体5q15-21.1的从头间质缺失的病例

Brief Report: A Case of Autism with Interstitial Deletion of Chromosome 13

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