Bartoloni Saint Omer F, Calzolari A, Cecconi A, Giovannucci Uzielli M L
Dipartimento di pediatria dell'Università di Firenze.
Pathologica. 1990 Sep-Oct;82(1081):543-8.
Partial trisomy 7p has been observed associated with particular anatomo-pathological findings. A newborn female with several congenital anomalies, whose chromosome constitution was: 46,XX,-14, + der (7;14) (7pter----7p11::14p11----14qter), is reported. The patient died at the age of 10 months, because of cardiac failure and autopsy was performed: the microscopic study showed spongy degeneration in the brain.
已观察到7号染色体短臂部分三体与特定的解剖病理学发现相关。本文报告了一名患有多种先天性异常的新生女婴，其染色体组成为：46,XX,-14, + der (7;14) (7pter----7p11::14p11----14qter)。该患者于10个月大时因心力衰竭死亡，并进行了尸检：显微镜检查显示大脑有海绵状变性。
