Chromosomal aberrations that are associated with speech and language pathology and can occur in the setting of normal or only mildly impaired cognitive function
| Chromosome disorder (name syndrome) | Chromosome position (Hg19) and major candidate genes phenotype | Clinical features | No. of publ. cases | Considerations for medical follow-up* |
|---|---|---|---|---|
| 1p21.3 microdeletion | Chr 1: 97.5–98.5 Mb DPYD and MIR137 | Normal IQ-mild ID, severe speech delay, ASD | <20 | Counselling carrier status dihydropyrimidine dehydrogenase deficiency |
| 7q11.23 microduplication (OMIM 609757) | Chr 7: 72.8–74.3 Mb GTF2I | Normal IQ-moderate ID, dysmorphia, hypotonia, severe expressive language delay, dysarthria, aortopathy | >75 | Cardiac evaluation |
| 10q22q23 microdeletion | Chr10: 81.6–89.1 Mb | Borderline-moderate ID, expressive/ receptive language delay, macrocephaly, dysmorphia, cardiac anomalies, cerebellar anomalies | <20 | Cardiac evaluation and GI follow-up |
| 12p12.1 microdeletion (OMIM 604975) | Chr 12: 23.7–24.7 Mb SOX5 | Normal IQ-moderate ID, expressive language delay, mutism, ADHD, aggression | <20 | – |
| 12p13.33 microdeletion | Chr12: 1.1–1.6 Mb ELKS/ERC1 | Normal IQ-mild ID CAS, ADHD, DD | <20 | – |
| 15q11.2 microdeletion (OMIM 615656) | Chr15: 22.8–23.1 Mb NIPA1, NIPA2, CYFIP1 and TUBGCP5 | Normal IQ-mild ID Speech and language delay, ADHD, ASD, epilepsy, CHD | >100 | Cardiac evaluation |
| 15q11.2q13 microduplication (OMIM 608636) | Chr15: 23.1–28.9 Mb | Normal IQ-moderate ID, parent of origin effect, speech delay, apraxia, dyslexia, motor delay, hypotonia, ASD | >75 | Awareness and treatment of GI symptoms |
| Proximal 16p11.2 microdeletion (OMIM 611913) | Chr16: 29.5–30.3 Mb | Normal IQ-moderate ID, speech/language delay, obesity, CAS, congenital abnormalities | >75 | Dietary management |
| 17p11.2p11.2 microduplication (Potocki-Lupski syndrome) (OMIM 610883) | Chr 17: 16.8–20.3 Mb | Low-average IQ-moderate ID, speech/language delay, ASD, hypotonia, feeding difficulties, behavioural problems, CHD, aortopathy | >75 | Cardiac evaluation, assessment of sleep apnoea |
| 22q11.2 microdeletion (velocardiofacial syndrome) (OMIM 192430) | Chr 22:18.7–21.8 Mb TBX1 and COMT | Normal IQ-mild ID, speech/language delay, CHD, velopharyngeal insufficiency, cleft palate, hypotonia | >100 | Multiple medical recommendations: see published guidelines 12–14 |
| 22q11.2 distal microdeletion (OMIM 611867) | Chr22: 22.1–23.8 Mb | Normal IQ-mild ID, hearing loss, speech/language delay, gross delay, behavioural problems, CHD | >25 | Hearing assessment, cardiac evaluation |
| Sex chromosome aneuploidy | 47,XXY 47,XYY 47,XXX 45,X† | Average IQ/mild DD, ADHD, features of hypogonadism Average IQ/mild DD, ADHD Average IQ, mild DD, ADHD Average IQ, features of ovarian dysgenesis | >100 >100 >100 >100 | Multiple medical recommendations: see published guidelines15 – – See published guidelines16 |
*Medical surveillance to consider in addition to speech/language evaluation and therapy.
†In general, individuals with Turner syndrome have average to above average performance on most verbal tasks, however there is evidence that oral fluency skills are impaired.
ADHD, attention-deficit hyperactivity disorder; ASD, autism spectrum disorder; CAS, childhood apraxia of speech; CHD, congenital heart disease; DD, developmental delay; GI, gastrointestinal; ID, intellectual disability; No., number; publ, published.