Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report

Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report

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Abstract We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features.He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hypertelorism.His ears were prominent and dysmorphic, he alphaville clothing had a long philtrum and a high arched palate.His weight was 17 kg (25th percentile) and his height 120 cm (50th percentile).High resolution chromosome analysis identified in 50% of the cells a normal male karyotype, and in 50% of the cells one chromosome 18 showed a terminal deletion from 18q21.

32.Molecular cytogenetic investigation confirmed a del(18)(q21.32-qter) in the one chromosome 18, but furthermore revealed the presence of a duplication in q21.2 in the other chromosome 18.The case hyfrodol is discussed concerning comparable previously reported cases and the possible mechanisms of formation.