engleski

Clinical and cytogenetic findings in a girl with dup16 (q12.1q21)

We describe a three year old girl admitted for evaluation because of speech delay, aggressive behaviour and dysmorphic facial features. Family history and pregnancy were unremarkable. Newborn period and early childhood were complicated with respiratory, gastrointestinal and urinary tract infections. Associated structural anomalies of respiratory or urogenital tract as well as immune deficiency have been ruled out. Clinical examination revealed mild dysmorphic features: dysplastic ears, lower forehead, palpebral fissures slant down, hypoplastic supra- orbital ridges, blepharophimosis, epicanthic folds, flat nasal bridge, bulbous nose, long philtrum, thin upper lip, small mouth, and short neck. Marked lumbar lordosis and broad thorax were observed. Hands and feet were small with thick fingers. Audiometric findings were normal. Ophthalmologic examination revealed left side strabismus and hypetmetropy. Ultrasound examination of abdomen and pelvis was normal as well as EEG and CT of the brain. Routine cytogenetic chromosome analysis showed additional material on chromosome 16. FISH analysis with WCP-16 probe revealed that this material originates from chromosome 16. Microarray analysis with a ≈75 kb resolution showed a gain on the long arm of chromosome 16 at bands q12.1 through q21, which is approximately 9.92 Mb in size. To the best of our knowledge, this is a first description of a patient with dup16 (q12.1q21). The possible influence of the triple dosage of genes located in this region on clinical presentation of our patient is discussed.

microduplication

nije evidentirano