Gereltzul Enkhtuvshin, Baba Yoshiyuki, Suda Naoto, Shiga Momotoshi, Inoue Maristela Sayuri, Tsuji Michiko, Shin Insik, Hirata Yukio, Ohyama Kimie, Moriyama Keiji
Maxillofacial Orthognathics, Graduate School, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8549, Japan.
Clinical and Molecular Endocrinology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
J Hum Genet. 2008;53(10):941-946. doi: 10.1007/s10038-008-0326-7. Epub 2008 Aug 5.
This is a report of a 27-year-old woman with an unusual de novo chromosomal abnormality. Mosaicism was identified in peripheral blood cells examined by standard G-bands by trypsin using Giemsa (GTG) analysis and fluorescence in situ hybridization (FISH) analysis with chromosome-18 region-specific probes, 46,XX,del(18)(pter --> q21.33:)[41], 46,XX,r(18)(::p11.21 --> q21.33::)[8], and 46,XX,der(18)(pter --> q21.33::p11.21 --> pter)[1]. On the other hand, the karyotype of periodontal ligament fibroblasts was nonmosaic, 46,XX, der(18)(pter --> q21.33::p11.21 --> pter)[50]. All cell lines appeared to be missing a portion of 18q (q21.33 --> qter). The pattern of the dup(18p)/del(18q) in the rod configuration raises the possibility of an inversion in chromosome 18 in one of the parents. However, no chromosomal anomaly was detected in either parent. The most probable explanation is that de novo rod and ring configurations arose simultaneously from an intrachromosomal exchange. The unique phenotype of this patient, which included primary hypothyroidism and primary hypogonadism, is discussed in relation to her karyotype.
这是一篇关于一名27岁女性患有罕见的新发染色体异常的报告。通过使用吉姆萨（GTG）分析的标准G带胰蛋白酶处理外周血细胞以及使用18号染色体区域特异性探针的荧光原位杂交（FISH）分析，鉴定出了嵌合体，分别为46,XX,del(18)(pter→q21.33:)[41]、46,XX,r(18)(::p11.21→q21.33::)[8]和46,XX,der(18)(pter→q21.33::p11.21→pter)[1]。另一方面，牙周膜成纤维细胞的核型为非嵌合体，46,XX, der(18)(pter→q21.33::p11.21→pter)[50]。所有细胞系似乎都缺失了18q的一部分（q21.33→qter）。杆状构型中dup(18p)/del(18q)的模式增加了父母一方18号染色体发生倒位的可能性。然而，父母双方均未检测到染色体异常。最可能的解释是，新发的杆状和环状构型是由染色体内交换同时产生的。结合该患者的核型，讨论了其包括原发性甲状腺功能减退和原发性性腺功能减退在内的独特表型。
