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Clin Genet. 1977 Jul;12(1):9-16.

Partial trisomy 22: a recognizable syndrome.

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.

PMID:
891009
[PubMed - indexed for MEDLINE]
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