Table 1. Phenotypes and genetic testing of the eight patients.

Patient	Age	Gender	Phenotypes	Previous genetic testing
Patient 1	11	Male	DD/ID, hydrocephalus, adducted thumbs, agenesis of corpus callosum, spasticity, optic atrophy, CTEV, no speech	Karyotype, aCGH
Patient 2	4	Male	DD, microcephaly, dysmorphism (hypertelorism, low set ears, posteriorly rotated, microstomia with tented upper lip, high forehead with cowlick), hypotonia, short fingers, bilateral CTEV, bifid scrotum, undescended testes, speech delay, family history of neurodevelopmental disorders and early deaths	aCGH
Patient 3	4	Female	Dandy-Walker malformation, bilateral post-axial polydactyly, ventricular septal defect; anal stenosis, hearing loss, omphalocoele minor, hypoplastic nipple, sacral dimple, low set ears, deep set eyes, significant tendency to keloid formation	Karyotype, fluorescent in-situ hybridization for 6p deletion, aCGH
Patient 4	11	Female	DD, autism spectrum disorder diagnosed at age 3½.	Karyotype, Angelman Syndrome, aCGH
Patient 5	5	Male	DD, no speech, no eye contact	Karyotype, FragX, aCGH
Patient 6	5	Male	Speech delay, autism spectrum disorder, sister with DD and Turner's syndrome	Karyotype, FragX, aCGH
Patient 7	11	Male	Normal IQ, mild autism, does not interact with peers, hyperactive	Karyotype, aCGH
Patient 8	7	Female	DD, intellectual disability? autism spectrum disorder, speech delay, moderate IQ, hypertelorism, depressed nasal bridge, prominent jaw, brother with ADHD	Karyotype, FragX, aCGH,

DD  =  developmental delay; ID  =  intellectual disability; CTEV  =  congenital talipes equinovarus; ADHD  =  attention deficit hyperactivity disorder; aCGH  =  array comparative genomic hybridization; FragX  =  Fragile X