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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 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.

Credits:

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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