Sources: Filipek et al., Neurology, Johnson et al., Pediatrics, Schaefer et al., Genetics in Medicine

Harrington et al, Clinical Pediatrics, 2018

Harrington et al, Clinical Pediatrics, 2018

Wyandt et al, Human Chromosome Variation: Heteromorphism and Polymorphism

Karyotype

Zneimer S, Cytogenetic abnormalities: chromosomal, FISH, and microarray-based reporting

Chromosomal Microarray

Nelson et al., Fragile X Syndrome: From Genetics To Targeted Treatment

Fragile X

Garg et al., Clinical Applications of Mass Spectrometry Methods and Protocols

Metabolic*

Sequencing

Sources: positiveexposure.org, rarechromo.org, globalgenes.org

Fragile X

22q deletion

Down syndrome

Creatine

transporter

deficiency 16p11.2 deletion

Sources: Genetics Home Reference

Source: Genetics Home Reference

Sources Genetics Home Reference

Sources: Genetics Home Reference, OMIM

Source: Genetics Home Reference

Sources: positiveexposure.org, rarechromo.org, globalgenes.org

Fragile XFragile X

testing

22q deletionCMA

Down syndromeKaryotype

Creatine

transporter

deficiencyMetabolic

Sequencing

16p11.2 deletionCMA

Harrington et al, Clinical Pediatrics, 2018

Chen et al., Genetics in Medicine, 2012

Hanish et al., J Spec Pediatr Nursing, 2018

Johannessen et al., Int J Mol Sci, 2017

Xu et al., Autism Research and Treatment, 2016

Harrington et al, Clinical Pediatrics, 2018

Chen et al., Genetics in Medicine, 2012

Hanish et al., J Spec Pediatr Nursing, 2018

Johannessen et al., Int J Mol Sci, 2017

Sources: wpspublish.com, sciencemag.org