Luke S, Bennett H S, Pitter J H, Verma R S
Division of Genetics, Long Island College Hospital, Brooklyn, New York 11201.
Ann Genet. 1992;35(1):48-50.
An 18-month-old girl was found to have monosomy for 17q25----qter which resulted from an unequal crossing-over in the mother carrying an apparently balanced translocation 46, XX, t(3;17) (p12;q24). Clinical features of the proband included: cleft palate, micrognathia and glossoptosis. It seems to be the first reported case where a single band deletion in the long arm of chromosome 17 has ever been noted.
一名18个月大的女孩被发现17号染色体长臂25区至末端存在单体型，这是由携带明显平衡易位46, XX, t(3;17) (p12;q24)的母亲发生不等交换所致。先证者的临床特征包括：腭裂、小颌畸形和舌后坠。这似乎是首次报道的涉及17号染色体长臂单个条带缺失的病例。
