Table 1

Clinical features reported in patients with interstitial deletions of chromosome 12q

Clinical feature Meinecke and Meinecke1 Watson et al2 Masuno et al3 Tonoki et al4 Present patient
Karyotype46,XY,del(12)  (q13.3q21.1)46,XX,del(12)  (q15q21.2)46,XX,−9,−12,+der(9)
 (9pter-9q32::12q15-12qter),
 +rec(12)(12pter-
 12q15::9q32-9qter)mat		46,XY,del(12)(q12q13.12)46,XX,del(12)  (q21.2q23.2)
Hypertelorism+−+++
Ptosis−−−++
Low set ears+++++
Posteriorly rotated ears+−+−+
Short neck/webbed neck−−−++
Low posterior hairline−−−++
Sparse, fine hair−+−++
Growth retardation−−+++
Developmental delay+++++
Pectus deformity−−+++
Other featuresBilateral cleft lip and   palate, upward slanting palpebral fissures, macrostomia, retrognathia, overriding toes and rocker bottom feet, atrial and ventricular septal defects Broad forehead, frontal   bossing, flattened occiput, sunken eyes, beaked nose, thin upper lip, high arched palate, some syndactyly of toes, cutis marmorataPatent foramen ovale,   trigonocephaly, broad nasal root, triangular face, fifth finger clinodactyly, brain CT scan abnormal Cleft palate, inguinal hernia,   undescended testes, hypocalcaemia, iron defic anaemia, strabismus, downward slanting palpebral fissures, epicanthus, short nose, anteverted nostrils, long philtrum, micrognathia, shield shaped chest, small hands and feet, scoliosis, clinodactyly little fingers Pyloric   stenosis, slightly increased pulmonary artery blood flow

  • +present, −absent.