(original) (raw)

TY - JOUR AU - Bartsch-Sandhoff, Margret AU - Hieronimi, Gertrud PY - 1979 DA - 1979/01/01 TI - Partial duplication of 17p JO - Human Genetics SP - 123 EP - 127 VL - 49 IS - 2 AB - An inherited partial duplication syndrome of 17p is described. A comparison of the symptoms of a de novo partial duplication of 17p (Latta and Hoo, 1974) and those of our own case seems to indicate a characteristic syndrome. The main features include a small-for-date baby born at full term, small stature, microcephaly, typical facial changes, a heart defect, contractures of different joints, and deformities of the feet. The patients show severe motor and mental retardation. SN - 1432-1203 UR - https://doi.org/10.1007/BF00277633 DO - 10.1007/BF00277633 ID - Bartsch-Sandhoff1979 ER -