Περίληψη:
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.
Συγγραφείς:
Manolakos, Emmanouil
Kosyakova, Nadezda
Thomaidis, Loreta and
Neroutsou, Rozita
Weise, Anja
Mihalatos, Markos
Orru, Sandro
and Kokotas, Haris
Kitsos, George
Liehr, Thomas
Petersen,
Michael B.
