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Ann Genet. 2001 Oct-Dec;44(4):183-6.

A rare case: mosaic trisomy 22.

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Osmangazi University, Medical Faculty, Department of Medical Genetics, Osmangazi University, Medical Faculty, TR-26480 Eski┼čehir, Turkey.


A 9-year-old female child of healthy parents (mother: 43 years, father: 44 years) was referred to our center because of severe mental retardation. While pedigree analysis was not contributory, two older sibs were normal and healthy. Physical examination revealed facial dysmorphism, microcephaly and hyperflexibility of all joints. Her chromosome constitution showed a mosaic pattern; mos 46,XX[98]/47,XX,+22[2]. So skin biopsy was performed and mosaic trisomy 22 was confirmed with FISH analysis (46,XX[73]/47,XX,+22[27]). Physical features of this case seemed consistent with her mosaic constitution. This report would be a demonstrative example to show the significant contribution of FISH in states of mosaicism.

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