Table 5 Summary of the phenotypic features of patients with deletions involving 1p13

1^a

del(1)(p22.3 → p13.3)

30 year-old

Female

Twins, growth and mental retardation, microcephaly, deafness, atresia of auditory canals, mild spastic palsy

2^b

del(1)(p22.3 → p13.3)

7 months

Female

Severe tetralogy of Fallot, multiple congenital anomalies and dysmorphic features, growth and psychomotor retardation, epilepsy

3^c

del(1)(p22.3 → p13)

22 months

Male

Developmental retardation, minor anomalies like ptosis, kyphoscoliosis, intestinal malrotation, hypotonia

4^d

del(1)(1p13.1 → p21.1)

13 years

Female

Short stature, developmental delay, mental retardation, epilepsy diplegia, coloboma