TY - JOUR
T1 - Deletion of the short arm of chromosome 3
T2 - A case report with necropsy findings
AU - Beneck, D.
AU - Suhrland, M. J.
AU - Dicker, R.
AU - Greco, M. A.
AU - Wolman, S. R.
PY - 1984
Y1 - 1984
N2 - A male infant with partial deletion of the short arm of chromosome 3 is described. The features this patient shares with six previously reported cases include microcephaly, dolichocephaly, micrognathia, epicanthic folds, ptosis, low set or malformed ears, postaxial polydactyly, and growth or mental retardation or both. In addition, visceral anomalies not previously reported in association with this chromosomal anormality are described. These characteristics may constitute a recognisable clinical syndrome.
AB - A male infant with partial deletion of the short arm of chromosome 3 is described. The features this patient shares with six previously reported cases include microcephaly, dolichocephaly, micrognathia, epicanthic folds, ptosis, low set or malformed ears, postaxial polydactyly, and growth or mental retardation or both. In addition, visceral anomalies not previously reported in association with this chromosomal anormality are described. These characteristics may constitute a recognisable clinical syndrome.
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U2 - 10.1136/jmg.21.4.307
DO - 10.1136/jmg.21.4.307
M3 - Article
C2 - 6492097
AN - SCOPUS:0021245595
SN - 0022-2593
VL - 21
SP - 307
EP - 310
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
IS - 4
ER -