We present a rare case of 8q duplication in a patient with oral frenulum history and absence of mental retardation.
A 7-year-old girl was referred to our clinic for hypertrichosis and dysmorphic facial appearance. On physical examination, hypertrichosis, upslanted palpebral fissures, epicanthus, hypertelorism, microretrognathia, high and broad nasal root, distinct glabella, fine upper lip, broad and flat philtrum, and clinodactyly were detected. She had a history of an operation for oral frenulum. Haemogram, routine biochemistry, hormone profiles, karyotype analysis, and brain magnetic resonance imaging (MRI) as well as ophthalmology, otolaryngology, and child psychiatry consultations were requested.
Hemogram, routine biochemistry, hormone profiles, brain MRI results, and the ophthalmologic evaluation were normal. Chronic otitis media was detected on otolaryngologic examination. IQ test score was reported as 95. Chromosome analysis revealed a 46,XX,der(8)add(8)(q24.1) karyotype. Karyotypes of mother, father, and sister were normal. Array comparative genomic hybridization (aCGH) was done to determine where the extra material came from. A duplication of 35.9 Mb at 8q22.3-q24.23 was detected.
Our case had similar phenotypic features to 8q duplication cases, such as hypertrichosis, hypertelorism, microretrognathia, and long philtrum. However, to our knowledge, this is the first case of 8q duplication with oral frenulum and without mental retardation.