The proband is a ten-year-old male and the first-born child of healthy non-consanguineous parents. The family history was unremarkable for neurological disorders, behavioral problems, and congenital anomalies. He was born at 39 weeks of gestation via elective caesarian section. His birth weight was 2800 g (10-25th centile) and his length, occipital frontal circumference and APGAR scores were not reported but were said to be normal. At birth, no medical problems were recorded. Postnatally, his growth was normal; global psychomotor delay was noted: the boy took his first steps at the age of 20 months and said his first words at the age of 36 months. In infancy, he had several episodes of febrile convulsions, which spontaneously resolved at the age of 3 years. During a routine heart examination, a heart murmur was noticed, which prompted further tests. An echocardiogram showed a bicuspid aortic valve, with mild stenosis of the aortic root. At the age of 9, he attended the fifth year of primary school due to speech disorder and anxiety. Neuropsychiatric assessment revealed anxiety, normal non verbal cognitive function, specific language impairment and fine motor skills disturbances, requiring weekly psychomotricity sessions. His growth parameters were as follows: weight was 39.3 kg (75th centile), height 147.2 cm (97th centile), body mass index (BMI) was 18.13 kg/m2. At the age of 10, the boy weighted 48 kg (>97th centile), height was 154 cm (>97th centile), head circumference was 58 cm (>97th centile) and BMI was 20.6. Pubic hair appearance, growth spurt and weight gain were noted. The boy was hospitalized, and further tests were performed, confirming precocious puberty of central origin: a radiograph of the hand and wrist, which showed advanced bone age (bone age of 13 years, biological age 9 years and 5 months); renal echography, adrenal glands and tests, which were normal, and the LHRH test, which showed an LH response. The boy started agonist LHRH therapy. Brain magnetic resonance imaging (MRI) showed increased cerebrospinal fluid (CSF) spaces posteriorly to the cerebellum and a moderate focal increase of CSF in the anterior temporal horns and in the lamina of the quadrigeminal cistern. The pituitary gland was normal. Chromosome analysis by array-CGH (a-CGH) revealed a 5.2-Mb deletion on chromosome 1p21.3p21.1 (chromosome 1:98,456,293-103,682,084 – hg19). a-CGH was performed using a Cytochip ISCA 180 K Oligo platform (BlueGnome Ltd.). a-CGH analysis of the parents revealed the de novo origin of the deletion.