Distal duplication 14q: Report of three cases and further delineation of the syndrome
- 1 November 1984
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 68 (2), 159-164
- https://doi.org/10.1007/bf00279307
Abstract
Three cases of distal duplication 14q are presented. The first two cases are cousins in a kindred segregating a balanced translocation t(14;18)(q31;q23). The third case resulted from a maternal translocation t(14;18)(q24;p11). By review of these cases and those previously reported, a distal duplication 14q syndrome is further delineated. Common features include postnatal growth retardation, mental retardation, hypotonia, microcephaly, slanted palpebral fissures, ocular hypertelorism, sparse eyelashes and eyebrows, nasal dysmorphism, tented lip, micrognathia, posteriorly rotated ears, and minor skeletal anomalies.Keywords
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