TABLE 2.
Chromosomal abnormalities associated with SMMCI (not HPE) and its main clinical findings.
| Chromosomal abnormality | Main clinical manifestations | Reference |
|---|---|---|
| 18p deletion | SMMCI, microcephaly, short stature, growth retardation, delayed speech, mild conductive hearing loss | Dolan et al. (1981) |
| 18p deletion | SMMCI, short stature, intellectual disability | Aughton et al. (1991) |
| 18p deletion | SMMCI, anterior nasal stenosis, hypotelorism, growth hormone deficiency, thyroid hormones deficiencies, delayed speech | Hui et al. (1995) |
| 18p deletion | SMMCI, growth hormone deficiency, pituitary dysplasia | Taine et al. (1997) |
| 18p deletion; 15p deletion | SMMCI, microcephaly, short stature, frontal lobes dysplasia, small sella turcica, intellectual disability, delayed speech, alopecia universalis, scoliosis | Kantaputra et al. (2006) |
| 18p11.2 deletion | SMMCI, anterior nasal stenosis, short stature, growth hormone deficiency, ectopic posterior pituitary, delayed speech, absence seizures | Naudi and Fung, (2007) |
| 18p11 deletion | SMMCI, amblyopia, mild intellectual disability | Poelmans et al. (2015) |
| 18p deletion; 4q duplication | SMMCI, short stature, mild intellectual disability, Beckwith–Wiedemann syndrome | |
| 18p11.21 deletion | SMMCI, ptosis, protruding ears | The present study |
| ring 18 | SMMCI, submucous cleft palate, congenital pyriform aperture stenosis, hypotelorism, microcephaly, short stature, growth hormone deficiency | Tavin et al. (1994) |
| mosaicism ring 18 | SMMCI, deviation of nasal septum/narrow nasal cavity, columella dysplasia, hypotelorism, microcephaly, short stature, growth hormone deficiency, frontotemporal atrophy, large cisterna magna, intellectual disability, autistic features, fusion of C2–C3 vertebrae, cryptorchidism, small penis | Balci et al. (2011) |
| 7q36 deletion | SMMCI, hypotelorism, microcephaly, short stature, growth retardation, intellectual disability | Masuno et al. (1990) |
| 7q36 deletion | SMMCI, hypotelorism, esotropia, microcephaly, short stature, growth retardation, severe intellectual disability, scoliosis | |
| 7q36 deletion | SMMCI, microcephaly, growth retardation | Frints et al. (1998) |
| 7q36 deletion | SMMCI, choanal stenosis, microcephaly, mild intellectual disability | |
| 7q deletion | SMMCI, microcephaly, hypertrophy of tonsil, nasal polyp | Moog et al. (2001) |
| 7q deletion | SMMCI, lumbosacral dysplasia, subcutaneous lumbosacral mass | Tubbs and Oakes (2004) |
| 7q36 deletion; 5q duplication | SMMCI, choanal atresia, hypotelorism, ptosis, microcephaly, short stature, severe intellectual disability, small penis | Poelmans et al. (2015) |
| 22q11 deletion | SMMCI, midnasal stenosis, hypotelorism, microcephaly, short stature, Velocardiofacial syndrome (velopharyngeal incompetence) | Hall et al. (1997) |
| 22q11.2 deletion | SMMCI, deviation of nasal septum/narrow nasal cavity, DiGeorge syndrome | Yang et al. (2005) |
| 22q11 deletion | SMMCI, Velocardiofacial syndrome, obstructive sleep apnea | Oberoi and Vargervik (2005) |
| 22q11 deletion | solitary median mandibular central incisor, cleft palate, Velocardiofacial syndrome | |
| 47,XXX | SMMCI, bifid uvula, hypotelorism, intellectual disability, epilepsy, patent ductus arteriosus | Miura et al. (1993) |
| 1q duplication; 6q deletion | SMMCI, hypertelorism, microcephaly, growth retardation, corpus callosum dysgenesis, intellectual disability, seizures | Chen et al. (2012) |
| 1p31.3 duplication | SMMCI, deviation of the nasal septum, delayed myelin degeneration, deep sulci in cerebral hemispheres, delayed speech, intellectual disability, epilepsy | Yu et al. (2021) |
| 2q21.2 deletion; 20p12.1 duplication | SMMCI, hypertelorism, convergent strabismus, short stature, growth hormone deficiency, growth retardation, empty sella, panhypopituitarism, mild intellectual disability, hypothyroidism, absence of puberty, inner genitals dysplasia | Szakszon et al. (2012) |