Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies
نویسندگان
چکیده
منابع مشابه
Association of Fetal and Parental Chromosomal Abnormalities with Congenital Anomalies
Background & Aims: Chromosome abnormalities are a major cause of miscarriage and neonatal mortality. The present study aimed to determine the association of fetal and parents chromosomal abnormalities with congenital anomalies. Methods: A cross-sectional study was performed in a tertiary referral center (Afzalipour Hospital) over 16 months period (2011-2012). The study groups consisted of 77 fe...
متن کاملClinical genetics of neurodevelopmental disorders
CC-BY 4.0 International license peer-reviewed) is the author/funder. It is made available under a The copyright holder for this preprint (which was not. Introduction " our incomplete studies do not permit actual classification; but it is better to leave things by themselves rather than to force them into classes which have their foundation only on paper " – Edouard Seguin 1 " The fundamental mi...
متن کاملChromosomal microarrays testing in children with developmental disabilities and congenital anomalies.
OBJECTIVES Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort. METHODS Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarr...
متن کاملCongenital neurodevelopmental anomalies in pediatric and young adult cancer
Congenital anomalies that are diagnosed in at least 120,000 US infants every year are the leading cause of infant death and contribute to disability and pediatric hospitalizations. Several large-scale epidemiologic studies have provided substantial evidence of an association between congenital anomalies and cancer risk in children, suggesting potential underlying cancer-predisposing conditions ...
متن کاملABC of clinical genetics. Chromosomal disorders II.
Developmental delay in child with deletion of chromosome 13. Chromosomal abnormalities are generally associated with multiple congenital malformations and mental retardation. Children with more than one physical abnormality, particularly if retarded, should therefore undergo chromosomal analysis as part of their investigation. Chromosomal disorders are incurable but can be reliably detected by ...
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ژورنال
عنوان ژورنال: Journal of Pediatric Genetics
سال: 2016
ISSN: 2146-4596,2146-460X
DOI: 10.1055/s-0036-1584306