Abstract
Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal analysis revealed the karyotype 46,XX,der(19)ins(19;9)(q13.4;q34.3q34.3)pat. Cytogenetic microarray analysis (CMA) identified a ~2.3Mb duplication of 9q34.3 → qter, which was confirmed by Fluorescence in situ hybridisation (FISH). The duplication at 9q34.3 is the smallest among the cases reported so far. The proband exhibits similar clinical features to those previously reported cases with larger duplication events.
Highlights
Shalinder Singh,1 Fern Ashton,1 Renate Marquis-Nicholson,1 Jennifer M
Cytogenetic microarray analysis (CMA) identified a ∼2.3Mb duplication of 9q34.3 → qter, which was confirmed by Fluorescence in situ hybridisation (FISH)
Fundoscopy revealed the presence of pigmentary changes in both posterior poles
Summary
The proband was born prematurely at 35 weeks gestation with a birth weight of 2040 g. She was investigated for hypotonia and associated plagiocephaly; a brain MRI scan showed no abnormalities She had difficulties swallowing solids until the age of 2 years with ongoing tendency to drooling and keeping her mouth open. The degree of her learning difficulty was minimal and psychometric assessment was not deemed to be necessary She was noted to have difficulties in gross motor and fine motor skills and required assistance from an occupational therapist. Fundoscopy revealed the presence of pigmentary changes in both posterior poles She was reviewed at the genetics clinic at 16.5 years of age. At that time, she was continuing to make good academic progress she was receiving some input from the learning support unit attached to her school.
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