title: 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.
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 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 is discussed concerning comparable previously reported cases and the possible mechanisms of formation.
authors.affiliation: Genomedica SA, Piraeus, Greece. petersen@otenet.gr.
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Manolakos
authors.forename: Nadezda
authors.initials: N
authors.lastname: Kosyakova
authors.forename: Loreta
authors.initials: L
authors.lastname: Thomaidis
authors.forename: Rozita
authors.initials: R
authors.lastname: Neroutsou
authors.forename: Anja
authors.initials: A
authors.lastname: Weise
authors.forename: Markos
authors.initials: M
authors.lastname: Mihalatos
authors.forename: Sandro
authors.initials: S
authors.lastname: Orru
authors.forename: Haris
authors.initials: H
authors.lastname: Kokotas
authors.forename: George
authors.initials: G
authors.lastname: Kitsos
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen