9p缺失儿童自闭症谱系障碍诊断的临床困境。

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2021-09-01 Epub Date: 2020-06-19 DOI:10.1055/s-0040-1713431

Brendan E Karba, Jean-Francois Lemay, Scott A McLeod

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引用次数: 2

摘要

我们报告了一位3岁女童患者，其表现为三头畸形、鼻梁宽、枕部扁平和中脸发育不全。对她发展状况的正式评估显示，她的表达性和接受性语言发育迟缓，精细和大运动发育迟缓，没有想象力或象征性的代表性游戏。通过染色体微阵列分析，对其发育迟缓的病因进行了调查，发现基因诊断为9p24缺失。一名转诊临床医生也提出了自闭症谱系障碍(ASD)的另一种共发障碍的可能性。本病例报告强调了在已有遗传综合征的患者中诊断ASD的临床困境。

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The Clinical Dilemma of Autism Spectrum Disorder Diagnosis in a Child with 9p Deletion.

We reported on a 3-year-old girl child patient with the presence of trigonocephaly, broad nasal bridge, flattened occiput, and midface hypoplasia. Formal assessment of her development profile demonstrated expressive and receptive language delays, fine and gross motor delays, and no imaginative or symbolic representative play. Investigation of the etiology of her developmental delays revealed a genetic diagnosis of a 9p24 deletion by chromosomal microarray analysis. The possibility of an additional co-occurring disorder of autism spectrum disorder (ASD) was also raised by a referring clinician. This case report highlighted the clinical dilemma of diagnosing ASD in those with existing genetic syndromes.

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Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.