TY - JOUR
T1 - Partial deletion of distal 17q
AU - Bridge, J.
AU - Sanger, W.
AU - Mosher, G.
AU - Buehler, B.
AU - Nelson, R.
AU - Welsh, M.
AU - Newland, J.
AU - Kafka, M.
PY - 1985
Y1 - 1985
N2 - A new born female was found to have a deletion of the terminal portion of 17q. Prominent manifestations included microcephaly, apparent hypertelorism, epicanthic folds, a broad nasal bridge with anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with proximal thumbs, and a coxa vara deformity. The unbalanced translocation was inherited from the mother, who had a reciprocal translocation involving the terminal portions of 2p and 17q. To the best of our knowledge, this is the first report of a liveborn infant with deletion of the distal portion of 17q with the exception of reports of patients with ring chromosome 17.
AB - A new born female was found to have a deletion of the terminal portion of 17q. Prominent manifestations included microcephaly, apparent hypertelorism, epicanthic folds, a broad nasal bridge with anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with proximal thumbs, and a coxa vara deformity. The unbalanced translocation was inherited from the mother, who had a reciprocal translocation involving the terminal portions of 2p and 17q. To the best of our knowledge, this is the first report of a liveborn infant with deletion of the distal portion of 17q with the exception of reports of patients with ring chromosome 17.
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U2 - 10.1002/ajmg.1320210204
DO - 10.1002/ajmg.1320210204
M3 - Article
C2 - 4014309
AN - SCOPUS:0021868247
SN - 0148-7299
VL - 21
SP - 225
EP - 229
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 2
ER -