A paternally-inherited duplication spanning this region was identified in a 12-year-old male patient presenting with ASD and learning difficulties; the proband's father was reported to have learning difficulties as a child (Atack et al., 2014).
Case referred to Clinical Genetics service with learning difficulties, autistic spctrum disorder (diagnostic tools N/A), and unexplained muscle cramps with no evidence of a myopathy. Birth/neonatal history: normal antenatal scans; no concerns during pregnancy; born at term; birth weight of 3.28 kg (9th-25th %ile); was well immediately after birth. Developmental milestones: developmental delay; sat up at 10 months, walked at 2 years; delayed speech. Motor and musculoskeletal evaluation: previously examined by Pediatric Neurology department for muscle cramps; no evidence of myopathy (metabolic study results reported as normal). Dysmorphic features: elongated and wide palpebral fissures, elongated columella, bilateral low-set ears, short-webbed neck, box-shaped body habitus. Growth parameters: height of 144.6 cm (25th %ile), weight of 48.7 kg (91st-98th %ile), and head circumference of 51.5 cm (0.4th-2nd %ile). Family history: second child of healthy non-consanguineous White European parents; father noted to have dysmorphic features similar to the case, height of 164 cm (2nd-9th %ile), weight of 66.6 kg (25th-50th %ile), and head circumference of 55 cm (9th %ile), mild-moderate learning difficulties as a child, and surgically-treated congenital diaphragmatic hernia; mother had previous miscarriage at 10-weeks gestation and a still birth of unknown cause at 7-months gestation; healthy older sibling (presence or absence of paternally-inherited 13q31.3-q32.3 duplication not reported).
Learning difficulties; case currently attends a mainstream school but is scheduled to attend a secondary school for children with learning disabilities