Subject | With pathogenic CNVs | With CNVs of unknown significance | ||||||||||
1 | 2 | 3 | 4 | 5† | 6 | 7 | 8‡ | 9 | 10 | 11 | 12 | |
Abnormal | del(2)(p15p16.1) | del(2)(p15p16.1) | del(3)(p24.3p25) | dup(7)(q11.23) | del(14)(q11.2) | del(14q)(q11.2) | del(18)(q11.2) | del(X)(p11.22) | del(X)(p11.22) | dup(4)(q32.3) | del(13)(q32.2q33.1) | dup(Y)(q11.22) |
CNV(s) detected | del(5)(p15.2) | dup(15)(q11q13) | dup(15)(q11q13) | |||||||||
Age* | 11–15 | 6–10 | 11–15 | 6–10 | 36–40 | 6–10 | 6–10 | 11–15 | 11–15 | 11–15 | 2–5 | 16–20 |
Sex | F | M | M | F | F | F | M | M | M | M | M | M |
Family type | SPX | SPX | MPX-I | SPX | MPX-E | MPX-E | MPX-E | MPX-I | MPX-I | SPX | SPX | MPX-I |
Diagnosis | Autistic disorder | PDD-NOS | Autistic disorder | Autistic disorder | ASD (unspecified) | Autistic disorder | Autistic disorder | Autistic disorder | Autistic disorder | Autistic disorder | Autistic disorder | Autistic disorder |
Paternal age at delivery | 26–30 | 31–35 | 31–35 | 31–35 | N/A | 31–35 | 21–25 | 21–25 | 21–25 | N/A | 21–25 | N/A |
Maternal age at delivery | 21–25 | 26–30 | 31–35 | 26–30 | N/A | 31–35 | 26–30 | 21–25 | 21–25 | 16–20 | 21–25 | N/A |
Ethnicity | White | Mixed bi-racial | White | White | White | White | Mixed bi-racial | White | White | Filipino | White | Mixed bi-racial |
Microcephaly (<2nd centile) | + | + | − | − | − | − | − | − | − | − | − | − |
Macrocephaly (>98th centile) | − | − | + | − | − | − | − | − | − | − | + | − |
Prenatal GR | + | − | − | − | − | − | − | − | − | − | + | − |
Postnatal GR (<5%) | − | + | − | − | − | − | − | − | − | − | + | − |
Postnatal large stature (>98%) | − | − | + | − | − | − | − | − | − | + | − | − |
⩾2 CDs | + | + | + | + | + | + | + | + | + | + | + | + |
⩾2 SCAs | + | + | + | + | − | − | − | + | + | − | + | + |
Phenotype Score | 7 | 6 | 6 | 3 | 4 | 4 | 4 | 5 | 5 | 4 | 8 | 4 |
Epilepsy | − | + | + | − | + | − | − | − | − | − | + | − |
ID severity§ | Severe | Severe | Moderate | Moderate | Mild | Moderate | Mild | Moderate | Moderate | − | Severe | Moderate |
CDs, craniofacial dysmorphisms; F, female; GR, growth retardation; ID, intellectual disability (IQ<70); M, male; SCAs, systemic congenital anomalies; + presence of the phenotype; − absence of the phenotype.
*In years at time of clinical evaluation; age ranges have been provided rather than specific ages for anonymisation purposes.
†Aunt of subject 6
‡Brother of subject 9.
§Definition of ID severity according to IQ level: severe = IQ scores between 20 and 35; moderate = IQ scores between 35 and 50; mild = IQ scores between 50 and 70.