Ming P M, Goodner D M, Park T S
Obstet Gynecol. 1977 Feb;49(2):251-3.
A female infant with multiple congenital anomalies was found to have an abnormal karyotype: 45,XX,--6,--15, +t (6;15). Precise identification of the translocation was made by trypsin-Giemsa banding technic. The congenital malformations include hypertelorism, microphthalmia, beak nose, low-set ears, cleft palate, micrognathia, simian crease, hypertrichosis, and low hairline. The unbalanced translocation is apparently responsible for the abnormal phenotype.
45,XX,--6,--15, +t (6;15)。通过胰蛋白酶 - 吉姆萨显带技术对易位进行了精确鉴定。先天性畸形包括眼距过宽、小眼症、鹰嘴鼻、低位耳、腭裂、小颌畸形、猿线、多毛症和低发际线。不平衡易位显然是导致异常表型的原因。
