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.

Highlights

  • Cases involving partial deletions or duplications of chromosome 18 are well documented in the literature

  • Cytogenetic and molecular cytogenetic analyses GTG banding revealed in 50% of the cells a normal male karyotype 46,XY; in the remaining cells a terminal deletion of the long arm of the one chromosome 18, 46,XY,del(18)(q21.32-qter), was observed (Fig. 1A)

  • To determine if the telomere of the derivative chromosome 18 was present, FISH was carried out using a subtelomeric probe for the long arm

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Summary

Background

Cases involving partial deletions or duplications of chromosome 18 are well documented in the literature. The 18q- syndrome constitutes one of the frequent autosomal deletion syndromes in man, with more than 100 patients reported [1]. The syndrome includes moderate intrauterine growth retardation, moderate mental retardation, and a specific pattern of dysmorphisms and anomalies [1]. Mosaicism for a deleted chromosome 18 has been described in a few patients with mostly the full clinical picture of the 18q- syndrome. We report a patient with an unusual mosaic karyotype consisting of cells with (page number not for citation purposes). Molecular Cytogenetics 2008, 1:24 http://www.molecularcytogenetics.org/content/1/1/24 normal karyotype and others with a terminal deletion of one chromosome 18 and the other chromosome 18 having an interstitial duplication

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