Rare singleton deletion within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
6-year-old female patient born to non-consanguineous, healthy, Caucasian parents
Mild-to-moderate intellectual disability (ID); cognitive assessment performed using Wechslet Intelligence Scale for Children (WISC IV). Behavioral evaluation conducted using Conners' Rating Scales-Revised, Achenbach's Child Behavior Checklist (CBCL), Constantino's Social Responsiveness Scale 2 (SRS-2), the Autism Spectrum Quotient, Children's version (AQ-Child), and the Childhood Autism Rating Scale (CARS).
Birth/neonatal history: born at 37 weeks after uneventful pregnancy; birth weight of 2400 g(-3 SD), birth length of 44 cm (-1.8 SD), head circumference not recorded. Developmental milestones: delayed development; started walking unsupported at 2 years of age, said first words at 2.5 years of age. Motor and musculoskeletal evaluation: psychomotor instability; long fingers and thumbs. Behavioral/psychiatric evaluation: no evidence of autistic behavior; short attention span, compulsive behavior (trichotillomania), reactional aggressive behavior; evaluation by Conners' Rating Scales-Revised was mildly atypical (full T-score of 70; normal <61) for parents' questionnaire and markedly atypical (full T-score of 98) for teachers' questionnaire; no significant scores, either for full scale or for various subscales, on Achenbach's Child Behavior Checklist (CBCL); Constantino's Social Responsiveness Scale 2 (SRS-2) indicated mild difficulties in social reciprocity (T-score: 63); score of Autism Spectrum Quotient, Children's Version (AQ-Child) was slightly, but significantly, abnormal (score of 82, cut-off of 76); score of 20.5 on Childhood Autism Rating Scale (cut-off for ASD is 30). Sleep disturbances: heavy sleeper (at least 11 hours/day). EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: square face, pointed chin, sparse eyebrows in medial part, epicanthus, bulbous nose, long and smooth philtrum, thin vermillion, had left esotropia (facial dysmorphism felt to be non-discriminant, as it largely represented inherited family traits). Growth parameters: height of 109.5 cm (-0.66 SD), weight of 16.700 kg (-0.55 SD), and head circumference of 52 cm (0.92 SD) at age of 6 years. Family history: parents are non-consanguineous and healthy; father was 34 years old and mother was 35 years old at time of birth.
Mild-to-moderate ID; full-scale IQ of 50 using Wechsler Intelligence Scale for Children (WISC IV), with normal Verbal Comprehension Index of 81, Perceptual Reasoning Index of 60, Working Memory Index of 50, and Processing Speed Index of 50; very weak in logicomathematic reasoning.