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 120cm (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.


Emmanouil Manolakos1, Nadezda Kosyakova2, Loreta Thomaidis3, Rozita Neroutsou1, Anja Weise2, Markos Mihalatos4, Sandro Orru5, Haris Kokotas6, George Kitsos7, Thomas Liehr2 and Michael B Petersen4,6

  • 1. Bioiatriki SA, Athens, Greece
  • 2. Institute of Human Genetics and Anthropology, Jena, Germany
  • 3. 1st Department of Pediatrics, University of Athens, “Aghia Sophia” Childrens Hospital, Athens, Greece
  • 4. Genomedica SA, Piraeus, Greece
  • 5. Department of Medical Genetics, University of Cagliari, Cagliari, Italy
  • 6. Department of Genetics, Institute of Child Health, “Aghia Sophia” Children’s Hospital, Athens, Greece
  • 7. Department of Ophthalmology, University of Ioannina, Ioannina, Greece


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