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
Summary
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 We report a patient with an unusual mosaic karyotype consisting of cells with (page number not for citation purposes).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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