Benezra D, Maftzir G, Peer J, Cohen E
Ophthalmic Paediatr Genet. 1985 Apr;5(3):151-4. doi: 10.3109/13816818509006127.
A neonate with ocular abnormalities and a chromosomal aberration is described. The patient demonstrates a typical choroidal coloboma involving the iris ciliary body and choroid of the right eye, bilateral optic pits-coloboma and a karyotype with a 4-10 chromosomal translocation. Although a random occurrence of the ocular phenomena and the chromosomal aberration cannot be ruled out, it is appealing to speculate about the possible association of the ocular colobomata and the chromosomal translocation harbored by this patient.
本文描述了一名患有眼部异常和染色体畸变的新生儿。该患者表现出典型的脉络膜缺损,累及右眼的虹膜睫状体和脉络膜,双侧视盘-缺损,以及核型为4-10号染色体易位。虽然不能排除眼部现象和染色体畸变的随机发生,但推测该患者眼部缺损与染色体易位之间可能存在关联很有吸引力。