Genetic markers associated with asd and other childhood developmental delay disorders

A method for assessing the presence or absence of a chromosomal deletion or duplication syndrome in a subject, comprising:

• contacting a sample obtained from a subject with five or more oligonucleotides that are substantially complementary to portions of the genomic DNA sequence associated with the chromosomal deletion or duplication syndrome under conditions suitable for hybridization of the five or more oligonucleotides to their complements or substantial complements;
• obtaining hybridization values between the five or more oligonucleotides to their complements or substantial complements, or a subset thereof, using a hybridization assay;
• detecting the presence or absence of one or more copy number variants (CNVs) associated with the chromosomal deletion or duplication syndrome by detecting whether there is an increase or decrease in the hybridization values with respect to reference hybridization value(s);
• measuring the size of the one or more CNVs if the one or more CNVs is present in the sample;
• and
• identifying the subject having one or more CNVs at least about 500 bases in length as the subject with the chromosomal deletion or duplication syndrome.

A method for assessing the presence or absence of a chromosomal deletion or duplication syndrome and treating the chromosomal deletion or duplication syndrome in a subject, comprising:

• contacting a sample obtained from the subject with five or more oligonucleotides that are substantially complementary to portions of the genomic DNA sequence associated with the chromosomal deletion or duplication syndrome under conditions suitable for hybridization of the five or more oligonucleotides to their complements or substantial complements;
• obtaining hybridization values between the five or more oligonucleotides to their complements or substantial complements, or a subset thereof, using a hybridization detection method;
• detecting the presence or absence of one or more copy number variants (CNVs) associated with the chromosomal deletion or duplication syndrome by detecting whether there is an increase or decrease in the hybridization values with respect to reference hybridization value(s);
• identifying the subject having one or more CNVs as the subject with the chromosomal deletion or duplication syndrome;
• and
• treating the subject with the chromosomal deletion or duplication syndrome with gene therapy, RNA interference (RNAi), behavioral therapy, music therapy, physical therapy, occupational therapy, sensory integration therapy, speech therapy, the Picture Exchange Communication System (PECS), dietary treatment, drug therapy, or a combination thereof.