Dauwerse Johannnes G, Hansson Kerstin B M, Brouwers Ad A M, Peters Dorien J M, Breuning Martijn H
Center for Human Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 AL Leiden, The Netherlands.
Fertil Steril. 2006 Aug;86(2):463.e1-5. doi: 10.1016/j.fertnstert.2005.12.062. Epub 2006 Jun 12.
To report a case of a 46,XX male with an insertion of the sex-determining region Y (SRY) region in the terminal end of the long arm of chromosome 16.
Case report.
Molecular and cytogenetic units in a university hospital.
PATIENT(S): An infertile male, with normal masculinization of the external genitalia, who was referred for chromosomal analysis as an unaffected member of a family with idiopathic hypertrophic osteoarthropathy.
INTERVENTION(S): Cytogenetic investigation, physical examination, and hormonal assays.
MAIN OUTCOME MEASURE(S): Chromosomal analysis using GTG banding and fluorescence in situ hybridization (FISH).
RESULT(S): Conventional chromosome analysis revealed a normal 46,XX karyotype. The FISH with bacterial artificial chromosomes (BACs) of the SRY region indicated the presence of this region on the terminal end of the long arm of chromosome 16.
CONCLUSION(S): This is the first case of a 46,XX male with the SRY gene present on an autosome-here chromosome 16. The size of the inserted region containing SRY, inserted in 16qter, is approximately 600 kb.
报告一例46,XX男性病例，其性别决定区域Y（SRY）基因插入到16号染色体长臂末端。
病例报告。
大学医院的分子和细胞遗传学科室。
一名不育男性，外生殖器男性化正常，作为特发性肥厚性骨关节病家族中的未患病成员被转诊进行染色体分析。
细胞遗传学检查、体格检查和激素测定。
使用GTG显带和荧光原位杂交（FISH）进行染色体分析。
常规染色体分析显示核型为正常的46,XX。用SRY区域的细菌人工染色体（BAC）进行FISH检测表明该区域存在于16号染色体长臂末端。
这是首例SRY基因存在于常染色体（此处为16号染色体）上的46,XX男性病例。插入到16qter的包含SRY的插入区域大小约为600 kb。
