We are evaluating a child with a neurodevelopmental disorder in whom we suspect a genetic cause because they present suggestive findings (e.g., associated multiple congenital malformations). We performed an aCGH which was normal. We also performed a clinical exome (mendeliome) which did not provide information …
Continue reading «Estirando de la cuerda. Cuando el diagnóstico no llega a la primera.»
https://pubmed.ncbi.nlm.nih.gov/32512173/
The main identifiable risk factor in the clinical history is the presence of an older sibling with ASD, such that 1 in 5 children with older siblings with ASD will have an ASD diagnosis by age 3, being more frequent among males. Parental age is also a risk factor …
Indications for CMV PCR in urine within the first 2 weeks of life for the diagnosis of congenital CMV.
Comparative genomic hybridization array (aCGH) is the first-choice complementary genetic exploration in children with global developmental delay/intellectual disability and/or multiple congenital malformations, according to AAP, AAN, ISCA, and ACMG clinical guidelines. 1. Moeschler JB, Shevell M; Committee on Genetics Comprehensive evaluation of the child with intellectual disability …
