Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature.
A female infant with partial trisomy 10 mosaicism and hypomelanosis of Ito is presented. Features include a prominent forehead, hypertelorism, large dysplastic ears, prominent nasal root, a cleft lip and alveolar ridge, bilateral metatarsus adductus, and streaks and whorls of hypopigmented skin. The skin findings were diagnostic for hypomelanosis of Ito. A peripheral blood karyotype was normal. Fibroblasts from a junctional skin biopsy revealed mosaicism for partial trisomy of chromosome 10 [46, XX/47, XX, +del(10) (q11.2q23.2)]. The physical findings of this patient are compared to five published cases of complete trisomy 10 mosaicism and 94 cases of isolated trisomy 10p and trisomy 10q.
Boon
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Department of Human Genetics, Medical College of Virginia Richmond, USA.
Markello
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Jackson-Cook
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Pandya
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D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002879:Chromosomes, Human, Pair 10; D004423:Ear / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005546:Forehead / Q000002:abnormalities; D006801:Humans; D006972:Hypertelorism / Q000235:genetics / Q000503:physiopathology; D017496:Hypopigmentation / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D009030:Mosaicism; D014314:Trisomy