Distal duplication 14q: Report of three cases and further delineation of the syndrome |
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| Authors: | Susan L. Sklower Edmund C. Jenkins Sarah L. Nolin Charlotte J. Duncan Dorothy Warburton Kwame Anyane Yeboa Alice Merkrebs Robin Schwartz Krystyna Wisniewski Cyrus Stimson W. Ted Brown |
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| Affiliation: | (1) Institute for Basic Research in Developmental Disabilities, New York State Office of Mental Retardation and Developmental Disabilieies, Staten Island, New York;(2) Department of Pediatrics, Columbia University College of Physicians and Surgeons, New York, New York;(3) Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, 10314 Staten Island, New York, USA |
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| Abstract: | Summary 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. |
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