心脏异常/畸形儿童的遗传缺陷:Noonan综合征和CFC综合征。

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2023-03-01 DOI:10.1055/s-0040-1721441
Divya Kumari, Deepti Chaudhary, Inusha Panigrahi, Manoj K Rohit
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引用次数: 1

摘要

儿童心脏缺陷表现出显著的表型和遗传异质性。有了先进的基因技术,这些疾病可以通过专门的检测及早发现。产前检查是目前可行的改进超声检查和胎儿超声心动图。在这里,我们报告两例努南综合征和心皮肤综合征的患者在三级保健中心的遗传单位看到的心脏缺陷,有或没有发育迟缓,身材矮小,畸形。在这些情况下,也有恶性肿瘤的风险增加,如少年髓细胞白血病。随着下一代测序技术的出现,这类疾病的明确诊断和咨询成为可能。
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Genetic Defects in Children with Cardiac Anomalies/Malformations: Noonan and CFC Syndromes.

Cardiac defects presenting in childhood show significant phenotypic and genetic heterogeneity. With availability of advanced genetic technologies, these can be detected early using specialized testing. Prenatal testing is currently feasible with improved ultrasonography and fetal echocardiography. Here, we report two cases of Noonan's and cardiofaciocutaneous syndromes in patients seen in the genetic unit of a tertiary care center presenting with cardiac defect with or without developmental delay, short stature, and dysmorphism. In these conditions, there is also increased risk of malignancy such as juvenile myelomonocytic leukemia. With the advent of next-generation sequencing, definitive diagnosis and counseling is possible in this group of conditions.

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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.
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