微缺失综合征伴严重低张力和面部畸形:基因型-表型相关性。

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2023-06-01 DOI:10.1055/s-0040-1721739

Manisha Goyal, Mohammed Faruq, Ashok Gupta, Divya Shrivastava, Uzma Shamim

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引用次数: 1

摘要

肌张力减退是骨骼肌张力减退的一种症状，可以是非遗传性的，也可以是遗传综合征的一部分。低张力、发育迟缓和面部畸形是许多遗传综合征的非特异性发现，主要表现在染色体微缺失和重复。在这里，我们报告一个严重张力低下和面部畸形的病例，在很小的时候通过阵列比较基因组杂交(CGH)诊断为6q13q14.3缺失。最近的基因诊断技术，如阵列CGH，可以使临床医生更早地诊断染色体异常，并提供适当的医疗管理。

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6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype-Phenotype Correlation.

Hypotonia is a symptom of diminished tone of skeletal muscle and can be nongenetic or a part of genetic syndrome. Hypotonia, developmental delay, and facial dysmorphism are nonspecific findings observed in many genetic syndromes mostly in chromosomal microdeletion and duplication. Here we report a case with severe hypotonia and facial dysmorphism, diagnosed with deletion at 6q13q14.3 by array comparative genomic hybridization (CGH) at very early age. Recent genetic diagnostic technologies such as array CGH may enable clinicians to diagnose chromosomal abnormalities earlier and provide appropriate medical management.

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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.