Interstitial deletions involving the long arm of chromosome 12 are rare events. To our knowledge only 16 patients have been reported in literature [Funderburk et al., 1984; Meinecke and Meinecke, 1987; Watson et al., 1989; Ferro et al., 1995; Tonoki et al., 1998; Brady et al., 1999; Sathya et al., 1999; Gallego et al., 2000; Rauen et al., 2000, 2002; Rapley et al., 2001; Petek et al., 2003; Plotner et al., 2003; Perez Sanchez et al., 2004; James et al., 2005; Klein et al., 2005], 6 of those are proximal 12q deletions [Meinecke and Meinecke, 1987; Watson et al., 1989; Tonoki et al., 1998; Sathya et al., 1999; Gallego et al., 2000; Perez Sanchez et al., 2004]. Miyake et al. [2004] highlighted the genotype–phenotype relationship among the genes deleted in a 6.2 Mb region overlapping the chromosomal band 12q12, and the clinical features shown by two affected males. Both infants, one from Argentina (Patient 1) with del (12) (q11q13) first reported by Gallego et al. [2000], and the other from Japan (Patient 2) with del (12)(q12q13.12) first reported by Tonoki et al. [1998], had an overlapping phenotype. Among the genespresent in this region,YAF2 andAMIGO2were considered the candidate genes for growth and psychomotor retardation. In this report we describe a 10-year-old boy (Fig. 1) showing a 4.5 Mb 12q12 de novo deletion at array-CGH, that involves the majority of the genes already reported by Miyake et al., with the exception of PDZRN4, AMIGO2, and SLC38A4. Family history was unremarkable, and he is 5th child of nonconsanguineous parents, three sisters and one brother are healthy. He was born at the 42nd week of a pregnancy which was characterized by intrauterine growth retardation (IUGR) from the 7th month and poor fetal movements. At birth, weight was 2,800 g (10th–25th centile), length 45 cm (<10th centile) and occipitofrontal circumference (OFC) 33 cm (25th centile). No perinatal condition was reported. At 3 months, a karyotype and a brain CT scan were performed to investigate dysmorphic features; and both were normal. He presented with developmental delay (walking at 2.5 years, speech over 5 years after speech therapy, sphincter control at 4 years), failure to thrive, poor feeding, moderate congenital sensorineural deafness and recurrent respiratory infections. During infancy he underwent four surgical treatments: at 6 months for a fold of urethral mucosa, at 2.5 years orchyopexy, at 4 years for hydrocele, and at 9 years a prosthesis for right testicular atrophy. At 10 years hisweight was 3.6 SD with a BMI of 15, his height 2 SD and the OFC 4 SD. The distinctive clinical features are summarized in Table I. Additional features include a long and flat philtrum, a single palmar crease with low-set thumbs and unusual dermatoglyphics, large thorax, and a short and broad hallux with onchodystrophy. He also had a hyperkeratotic skin with a sebaceous nevus in left retroauricular region, that on histological examination was syringocystadenoma papilliferum. The Romberg test was unsteady. Limb radiographs showed multiple epiphyseal dysplasia on long, carpal, and tarsal bones and knees. The psychomotor testing (WISC-R, CPM of Raven, VMGT Bender) showed moderate mental retardation with poorly understandable speech due to multiple