查詢結果分析
來源資料
相關文獻
- Detection of KAL-1 Gene Deletion with Fluorescence in Situ Hybridization
- 豬假性狂犬病gE基因缺損不活化疫苗之免疫效力
- AZFa Candidate Gene Deletions in Taiwanese Patients with Spermatogenic Failure
- Smith-Magenis Syndrome: Report of One Case
- 豬假性狂犬病gE基因缺損不活化疫苗之免疫效力
- Clinical Significance of the Hepatitis B Virus Pre-S Deletion
- 一位LAMP2基因缺損致心肌病變病人的護理經驗
頁籤選單縮合
題 名 | Detection of KAL-1 Gene Deletion with Fluorescence in Situ Hybridization=以螢光性原位雜交法偵測Kallmann-1基因缺損 |
---|---|
作 者 | 侯家瑋; 蔡文友; 王作仁; | 書刊名 | 臺灣醫學會雜誌 |
卷 期 | 98:6 1999.06[民88.06] |
頁 次 | 頁448-451 |
分類號 | 415.85 |
關鍵詞 | 螢光性原位雜交法; 基因缺損; Kallmann syndrome; X chromosomal deletion; Fluorescence in situ hybridization; |
語 文 | 英文(English) |
英文摘要 | We investigated the molecular cytogenetic status of two unrelated boys and their family members because they had features consistent with Kallmann syndrome but normal karyotypes. The first patient was a 6-year-old boy who suffered from ichthyosis, bilateral cryptorchidism, hyposmia, and neurologic disorders including mirror movements of the hands and nystagmus. Mild to moderate mental retardation was also noted in this boy, his mother, and maternal grandmother. Fluorescence in situ hybridization (FISH) study using probes for Kallmann (KAL), steroid sulfatase, and ocular albinism type 1 all showed nullisomy on Xp22.3 in this patient, and hemizygosity in his older sister, mother, and maternal grandmother. The second patient was a 1-year-old boy who had micropenis. cryptorchidism, and hypoplastic scrotum since birth. Family study disclosed a 28-year-old maternal uncle with cryptorchidism, lack of secondary sexual characteristics, and anosmia. FISH showed only the KAL gene deletion. Polymerase chain reaction analysis also showed an absence of the KAL-1 sequence. FISH is a useful tool for the detection of KAL-1 deletion in people with normal karyotypes but features consistent with Kallmann syndrome. |
本系統中英文摘要資訊取自各篇刊載內容。