Govaerts L, Toorman J, Blij-Philipsen M V, Smeets D
Department of Clinical Genetics, Veldhoven, The Netherlands.
Ann Genet. 1996;39(4):197-200.
We report another case of a de novo interstitial del (14) (q11.2q13). The patient's karyotype was 46,XY,del(14) (q11.2q13) [62]/46,XY [1]. In situ hybridization excluded any additional abnormalities such as a translocation or insertion. The phenotype of our patient is compared with those previously published. Comparison of the chromosome 14 short arm polymorphisms of the patient and his parents indicated that the paternal chromosome 14 was deleted.
我们报告了另一例新发的间质性14号染色体缺失（14）（q11.2q13）病例。患者的核型为46,XY,del(14) (q11.2q13) [62]/46,XY [1]。原位杂交排除了任何其他异常，如易位或插入。我们将患者的表型与先前发表的表型进行了比较。对患者及其父母的14号染色体短臂多态性进行比较表明，父源14号染色体发生了缺失。
