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.
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.
Manolakos
Emmanouil
E
Genomedica SA, Piraeus, Greece. petersen@otenet.gr.
Kosyakova
Nadezda
N
Thomaidis
Loreta
L
Neroutsou
Rozita
R
Weise
Anja
A
Mihalatos
Markos
M
Orru
Sandro
S
Kokotas
Haris
H
Kitsos
George
G
Liehr
Thomas
T
Petersen
Michael B
MB