Sample | KS1 | KS2 | KS3 | KS4 | KS5 | KS6 | KS7 | KS8 | KS9 | KS10 | KS11 | KS12 | KS13* | KS14 * | KS15 | KS16 | 2q37.3 deletion |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Age | 20 months | 5 years | 10 years | 10 years | 4 years | 7 years | 2 years | 2 years | 8 years | 8 months | 12 years | 10 years | 20 years | 17 years | 8 years | 8 months | |
Gender | Female | Female | Male | Female | Male | Female | Male | Male | Male | Male | Male | Male | Female | Male | Male | Female | |
Prenatal growth restriction | + | - | + | - | - | + | - | - | + | - | - | - | - | - | - | + | - |
Postnatal growth restriction | + | - | - | - | - | + | + | + | - | - | - | + | - | + | - | + | + |
Microcephaly | - | - | - | + | - | - | + | - | + | + | - | + | - | - | - | + | + |
Craniofacial abnormality | |||||||||||||||||
Prominent forehead | - | + | - | - | - | - | - | - | - | - | - | - | - | + | - | - | + |
Long palpebral fissures | - | - | - | - | + | + | + | + | + | + | - | + | + | + | + | + | - |
Lower palpebral eversion | - | - | + | - | - | - | + | - | + | - | + | + | + | + | + | + | - |
Arched eyebrows | - | + | + | + | + | - | + | - | - | - | - | - | + | + | - | + | + |
Deep set eyes | - | - | - | - | - | - | - | - | - | - | - | - | - | + | - | - | + |
Blue sclerae | + | + | + | - | + | - | + | - | - | + | - | - | - | - | - | + | - |
Short, upturned nose | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | + |
Depressed nasal tip | + | + | + | + | + | + | + | - | + | + | - | + | - | + | - | + | - |
Preauricular pit | - | - | - | - | - | - | - | - | - | - | - | + | - | - | - | - | - |
Prominent or dysmorphic ears | + | + | + | - | + | + | + | + | + | - | - | + | + | + | - | + | + |
Cleft palate | BU | - | - | - | BU | - | - | - | BU | - | - | - | - | - | + | + | - |
Tented upper lip | - | + | + | + | + | - | + | - | - | + | + | + | + | - | + | - | - |
High-arched palate | + | - | - | + | - | + | + | + | + | - | - | + | + | + | + | + | |
Strabismus | - | + | - | - | - | - | - | mo | - | - | - | + | + | - | - | + | |
Abnormal Dentition | - | + | - | - | - | - | - | - | - | - | + | - | + | + | - | - | |
Skeletal abnormality | |||||||||||||||||
Brachydactyly one finger or general | + | + | + | + | + | + | + | - | - | - | - | + | + | - | - | + | + |
Short 5th finger with clinodactyly | - | - | + | + | - | - | - | - | - | - | + | + | - | - | + | - | |
Abnormal vertebrae/ribs | - | RH | - | - | - | - | - | - | - | TR | - | - | + | DR | - | + | |
Scoliosis | - | - | - | - | - | - | - | - | - | - | +, dorsal | - | - | - | - | + | |
Joint laxity | + | - | - | + | - | - | + | - | - | - | - | + | - | - | - | + | |
Prominent finger tip pads | + | + | + | + | + | + | + | + | + | + | - | + | + | + | + | - | |
Neurologyc abnormality | |||||||||||||||||
Hypotonia in infancy | + | + | - | + | + | + | + | + | + | + | - | + | + | + | + | - | + |
Mental retardation | mild | mild | - | severe | mild | mild | mild | mild | mild | severe | - | mild | mild | mild | mild | mild | + |
Seizure | + | + | + | - | + | - | + | - | - | - | - | - | - | - | - | - | + |
Visceral abnormality | |||||||||||||||||
Cardiovascular anomaly | VSD | - | - | - | - | ASD | - | - | PDA | - | VSD, RAA, ASA | - | VSD | - | VSD | + | |
Renal and urinary tract anomalies | - | - | - | - | NB | - | - | - | PD | - | - | - | PD | + | |||
CNS malformation | BA, HCC, CV | - | - | - | - | - | - | - | - | - | + | ||||||
Anogenital anomaly | APA | - | - | MG | - | - | - | NP | - | - | - | - | - | HC, APA | + | ||
Hearing | |||||||||||||||||
Recurrent otitis media | + | - | + | - | - | + | - | - | - | - | + | - | - | - | + | ||
Hearing loss | + | - | - | + | SN | + | - | - | - | - | - | - | - | + | |||
Other | TDAH, AS, SD | AS, M | MA, HH | many | |||||||||||||
Analyzed by CGH array | - | + | - | - | - | + | + | + | + | + | - | + | - | + | + | + |