Table 2 Summary of deletion regions and phenotypes in some reported cases of 18q deletion syndrome

Cody et al. (5 cases) [3]

18q11.2-q21.1

–

Cryptorchidism, Hypotonia,seizures, vision, hearing loss, Recurrentotitis, Recurrent URI, GU abnormalities, Other MRI findings, developmental delays, hypothyroidism

18q12.3-q21.1

–

Hutch diverticuli, hypotonia, hearing loss, recurrent otitis, GU abnormalities, delayed myelination, other MRI findings, developmental delays

18q12.3-q21.1

–

Hypotonia, seizures, developmental delays

18q12.3-q21.1

–

Hypotonia, vision, developmental delays

18q12.3-q21.1

–

Hypotonia, developmental delays

Margarit,E et al. (2 cases) [1]

18q23

71236891–76093303

GH insuffificiency, dysmyelination, Small adenohypophysis, Renal hypoplasia, Umbilical hernia, Reduced hearing, Smooth philtrum, Thin upper lip, Prognathism, Joint laxity, Neonatal hypoglycemia, developmental delays

Cody et al. (16 cases) [10]

18q22.1

59807588–61568468

GH insuffificiency, dysmyelination, developmental delays, hearing loss, Foot anomalies, atretic, stenotic ear canals, hypospadias, Tapered fingers, Flat mid-face, proximally placed thumbs, congenital heart abnormalities, Autoimmune disorders

(Myalgia, Arthritis, Hypothyroidism), palatal abnormalities, Neonatal complications (Jaundice, Apnea, Respiratory difficulties, Meconium Aspiration), Gastroesophageal reflux

Feng et al. (8 cases) [11]

18q21.31-q23

55040745–78014123

Cleft palate

18q21.32-q23

56288429–78013728

Developmental delays, hearing loss, Atrial septal defect, Cryptorchidism

18q21.32-q23

56817426–78014123

Developmental delays, Cleft palate, Atrial septal defect, Strephenopodia

18q21.33-q23

59581097–78013728

Flatfoot

18q21.33-q23

60090078–780013728

Developmental delays, Cleft palate, Ventricular septal defect, Pulmonary valve stenosis

18q21.33-q23

61221941–78013728

Developmental delays

18q22.1-q23

61985155–78013728

Developmental delays

18q22.3-q23

71400740–78013728

Hearing loss, Pulmonary valve stenosis

Shi et al. [4]

18q22.2-q23

68158880–78014123

Developmental delays, Hypotonia, Hypothyroidism, Recurrent fever, Seizures, Other MRI findings (abnormal cerebral white matter development, Dysplasia of corpus callosum), Polydipsia, Polyuria

Present study

18q22.2-q23

67562936–78005270

Developmental delays, Hypotonia, Hearing loss, cleft palate, Other MRI findings (abnormal cerebral white matter development), Vestibular dysplasia, Strabismus, Hypothyroidism, DDH, Recurrent fever