3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

Table 2

Summary of patients with overlapping deletions in 3p14.

Patient	Deletion breakpoints	Developmental delay/ID	Speech impairment	Autistic features	Ear anomalies	Facial dysmorphisms	Limb anomalies	Other distinctive features
Present Study	60.461.316–68.515.453	Severe	Yes	Yes, lack of a social smile, difficulties with eye contact, stereotypic movements	Slightly large and detached ears	Long face, prominent chin, broad forehead, wide mouth, widely spaced upper front teeth	None	motor developmental delay
Okumura et al., [9]; Twins A/B	60.472.496–67.385.119	Severe	No expressive language until the last follow-up at 49 months of age.	Yes	Low-set, posterior rotated	Arched down-slanting eyebrow, prominent forehead, epicanthic folds, micrognathia, hypertelorism, broad nasal brige, short philtrum	Camptodactyly	Twin 2: intestinal malrotation, ventriculomegaly
Schwaibold et al., [10]; Twins 1/2	58.224.794–64.571.699	Extend no specified	Undirected double syllables at 2 10/12 years of age	Yes (stereotypic movements)	Low-set, slightly posterior rotated	Arched, downslanting eyebrows, positional plagiocephaly, Twin B: cowlicks	Twin B: Thick left thumb with sites for two nails	Severe feeding problems, small stature, Twin B: hydrocephalus, hypoplasia of corpus callosum
Schwaibold et al., [10]; Patient 3	59.443.171–64.162.112	Extend no specified	No active speech, he follows simple orders at 18 years of age	Yes, in his adolescence he started to develop eye contact	None	Broad mouth, prominent chin, widely spaced teeth, deep-set eyes, long slender face, flat occiput	High tonicity in lower limbs	Brain anomalies in MRI
Tao et al., [11]; Patient 6	62.665.527–64.890.116	Severe	N/M	Yes	N/M	N/M	N/M	Epilepsy
D2250	54.452.525–65.609.348	Extend no specified	None	N/M	Extend no specified	Wide mouth, high palate, broad forehead, epicanthus, thick eyebrows	Camptodactyly, talipes equinovalgus, valgus, ulnar deviation of hands	High palate, strabismus
D250453	58.717.185–61.696.115	Extend no specified	Extend no specified	N/M	Low-set, posterior rotated, abnormality of the pinna	Low anterior hairline, mandibular prognathism, widely spaced teeth	N/M	Nevi, lentigines
D255918	62.749.576–63.021.934	Extend no specified	N/M	N/M	N/M	Plagiocephaly	2-3 toe syndactyly	Scrotal hypoplasia
D260004	59.813.606–65.296.648	Extend no specified	Severe	N/M	Low-set, posterior rotated	Prominent forehead/fontal bossing	Clinodactyly	None
nssv1605032	57.416.265–64.870197	Extend no specified	N/M	N/M	N/M	N/M	N/M	Muscular hypotonia
nssv577904	61.956.521–68.514.983	Extend no specified	N/M	N/M	N/M	N/M	N/M	N/M
nssv577902	54.079.045–66.046.136	Extend no specified	N/M	N/M	N/M	N/M	N/M	Failure to thrive, microcephaly

N/M: Not mentioned.