[Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion]

To analyze a child with facial abnormalities with combined cytogenetic and molecular techniques and delineate its clinical phenotype.

Neuropsychological profile of the child was analyzed. Color Doppler, CT and MRI were used for detecting the nodules in the body. Conventional peripheral blood karyotypes of the child and his parents were analyzed with G-banding. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities.

The child had mental retardation, maxillofacial dysmorphism on the right side, and irregular solid nodules on the back. The karyotypes of the child and his parents were all normal, while aCGH has identified a de novo constitutive 1.2 Mb deletion at 17q11.2 in the child. The aCGH results of his parents were normal.

The de novo 17q11.2 microdeletion probably underlies the facial abnormalities and neurofibromatosis in the patient.