Table 1

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 phenotypeClinical featuresNo. of publ. casesConsiderations for medical follow-up*
1p21.3 microdeletionChr 1: 97.5–98.5 Mb
DPYD and MIR137
Normal IQ-mild ID, severe speech delay, ASD<20Counselling carrier status dihydropyrimidine dehydrogenase deficiency
7q11.23 microduplication
(OMIM 609757)
Chr 7: 72.8–74.3 Mb
Normal IQ-moderate ID, dysmorphia, hypotonia, severe expressive language delay, dysarthria, aortopathy>75Cardiac evaluation
10q22q23 microdeletionChr10: 81.6–89.1 MbBorderline-moderate ID, expressive/ receptive language delay, macrocephaly, dysmorphia, cardiac anomalies, cerebellar anomalies<20Cardiac evaluation and GI follow-up 
12p12.1 microdeletion
(OMIM 604975)
Chr 12: 23.7–24.7 Mb
Normal IQ-moderate ID, expressive language delay, mutism, ADHD, aggression<20
12p13.33 microdeletionChr12: 1.1–1.6 Mb
Normal IQ-mild ID CAS, ADHD, DD<20
15q11.2 microdeletion
(OMIM 615656)
Chr15: 22.8–23.1 Mb
Normal IQ-mild ID Speech and language delay, ADHD, ASD, epilepsy, CHD>100Cardiac evaluation
15q11.2q13 microduplication
(OMIM 608636)
Chr15: 23.1–28.9 MbNormal IQ-moderate ID, parent of origin effect, speech delay, apraxia, dyslexia, motor delay, hypotonia, ASD>75Awareness and treatment of GI symptoms
Proximal 16p11.2 microdeletion
(OMIM 611913)
Chr16: 29.5–30.3 MbNormal IQ-moderate ID, speech/language delay, obesity, CAS, congenital abnormalities>75Dietary management
17p11.2p11.2 microduplication
(Potocki-Lupski syndrome)
(OMIM 610883)
Chr 17: 16.8–20.3 MbLow-average IQ-moderate ID, speech/language delay, ASD, hypotonia, feeding difficulties, behavioural problems, CHD, aortopathy>75Cardiac evaluation, assessment of sleep apnoea
22q11.2 microdeletion
(velocardiofacial syndrome)
(OMIM 192430)
Chr 22:18.7–21.8 Mb
Normal IQ-mild ID, speech/language delay, CHD, velopharyngeal insufficiency, cleft palate, hypotonia>100Multiple medical recommendations: see published guidelines 12–14
22q11.2 distal microdeletion
(OMIM 611867)
Chr22: 22.1–23.8 MbNormal IQ-mild ID, hearing loss, speech/language delay, gross delay, behavioural problems, CHD>25Hearing assessment, cardiac evaluation
Sex chromosome aneuploidy47,XXY
Average IQ/mild DD, ADHD, features of hypogonadism
Average IQ/mild DD, ADHD
Average IQ, mild DD, ADHD
Average IQ, features of ovarian dysgenesis
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.