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Partial trisomy 22: a recognizable syndrome.

P Garlinger·S A McGeary·E Magenis
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Abstract

A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is noted in the mother, sister and maternal aunt. Comparison is made with nine other reported cases of partial trisomy 22 confirmed by parental translocation. These suggest a definite syndrome, including mental retardation, congenital heart disease, skeletal anomalies, anti-mongoloid slant of the palpebral fissures, preauricular skin tags and low-set ears.

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Abnormalities, MultipleAdolescentBone and BonesChromosomes, Human, 21-22 and YFaceFemaleHeart Defects, CongenitalHumansIntellectual DisabilityMosaicismSyndromeTranslocation, GeneticTrisomyCase ReportsJournal ArticleResearch Support, U.S. Gov't, P.H.S.

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P Garlinger, S A McGeary, E Magenis. 1977. Partial trisomy 22: a recognizable syndrome.. https://doi.org/10.1111/j.1399-0004.1977.tb00895.x

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