Martínez SCA, Méndez RLA, Soriano TM, García RM

Language: Spanish
References: 12
Page: 57-60
PDF size: 302.41 Kb.

ABSTRACT

Polyploidies as chromosomal aberration have been studied as a condition concerning only the plant kingdom; however, in humans they were considered as a lethal condition. The most frequently detected are complete triploidies and tetraploidies, as well as diploid/triploid and diploid/tetraploid mixoploids. We present a case with 2n/4n mosaicism, confirmed by cytogenetic study in fibroblasts, with the aim of contributing to the diagnosis of pigmentary mosaicisms. This is a 12-year-old male patient, referred to the Genetics Department of the Endocrinology Institute for presenting muscle weakness and neurovegetative disorders. Physical examination showed discrete asymmetry with a right-sided hypo-growth, slight palpebral ptosis and hyperpigmented areas in skin patches, especially at chest level. He was evaluated by neurologist and dermatologist. A chromosomal study in blood was made. Skin biopsies were taken to perform anatomopathological and cytogenetic studies. Hyperkeratosis was observed in hyperpigmented areas, irregular hyperpigmentation of the basal layer of the epidermis, scarce pigmentary incontinence. The chromosomal study in fibroblasts showed a diploid/ tetraploid mosaicism and the blood study was normal. This contrasts with that reported by other authors whose finding of diploid/tetraploid mosaicism has been in blood, skin and bone, indistinctly. The observation of body asymmetry and pigmentary mosaicisms in the skin should make us suspect the presence of mixoploidy.

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