中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
5期
559-562
,共4页
叶志纯%祝兴元%赵蕊%贺新玉%张惠佳%李梨平%祝益民
葉誌純%祝興元%趙蕊%賀新玉%張惠佳%李梨平%祝益民
협지순%축흥원%조예%하신옥%장혜가%리리평%축익민
9号环状染色体综合征%双色荧光原位杂交%临床表型
9號環狀染色體綜閤徵%雙色熒光原位雜交%臨床錶型
9호배상염색체종합정%쌍색형광원위잡교%림상표형
ring chromosome 9 syndrome%dual-color fluorescence in situ hybridization%clinical phenotypes
目的 对1例9号环状染色体综合征患儿进行细胞分子遗传学分析,探索9号环状染色体与临床表型的关系.方法 采用染色体G显带核型分析和TelVision 9p探针和TelVision 9q探针进行双色荧光原位杂交,识别和定位1例9号环状染色体患儿.结果 患儿核型为45,X,-9/46,XX,r(9)(p24q34)/46,XX,r(9;9)(p24q34;p24q34)(4/92/4).双色荧光原位杂交显示9号环状染色体上没有杂交信号,提示9号环状染色体短臂末端缺失片段至少有115 kb,长臂末端缺失片段至少有95 kb.与其它报道的环状9号染色体综合征、9号染色体短臂和长臂部分单体综合征相比,本例患者兼有环状9号染色体综合征的临床特征以及9号染色体短臂和长臂部分单体综合征的一些特征.结论 由于缺失的断裂点之间亚显微结构的不同、环的不稳定性、基因与表型相互作用以及胎儿环境条件的不同等原因,具有相同断裂点的9号环状染色体综合征患者可以有不同的临床表型,单倍基因剂量不足对临床表型发挥了重大作用.
目的 對1例9號環狀染色體綜閤徵患兒進行細胞分子遺傳學分析,探索9號環狀染色體與臨床錶型的關繫.方法 採用染色體G顯帶覈型分析和TelVision 9p探針和TelVision 9q探針進行雙色熒光原位雜交,識彆和定位1例9號環狀染色體患兒.結果 患兒覈型為45,X,-9/46,XX,r(9)(p24q34)/46,XX,r(9;9)(p24q34;p24q34)(4/92/4).雙色熒光原位雜交顯示9號環狀染色體上沒有雜交信號,提示9號環狀染色體短臂末耑缺失片段至少有115 kb,長臂末耑缺失片段至少有95 kb.與其它報道的環狀9號染色體綜閤徵、9號染色體短臂和長臂部分單體綜閤徵相比,本例患者兼有環狀9號染色體綜閤徵的臨床特徵以及9號染色體短臂和長臂部分單體綜閤徵的一些特徵.結論 由于缺失的斷裂點之間亞顯微結構的不同、環的不穩定性、基因與錶型相互作用以及胎兒環境條件的不同等原因,具有相同斷裂點的9號環狀染色體綜閤徵患者可以有不同的臨床錶型,單倍基因劑量不足對臨床錶型髮揮瞭重大作用.
목적 대1례9호배상염색체종합정환인진행세포분자유전학분석,탐색9호배상염색체여림상표형적관계.방법 채용염색체G현대핵형분석화TelVision 9p탐침화TelVision 9q탐침진행쌍색형광원위잡교,식별화정위1례9호배상염색체환인.결과 환인핵형위45,X,-9/46,XX,r(9)(p24q34)/46,XX,r(9;9)(p24q34;p24q34)(4/92/4).쌍색형광원위잡교현시9호배상염색체상몰유잡교신호,제시9호배상염색체단비말단결실편단지소유115 kb,장비말단결실편단지소유95 kb.여기타보도적배상9호염색체종합정、9호염색체단비화장비부분단체종합정상비,본례환자겸유배상9호염색체종합정적림상특정이급9호염색체단비화장비부분단체종합정적일사특정.결론 유우결실적단렬점지간아현미결구적불동、배적불은정성、기인여표형상호작용이급태인배경조건적불동등원인,구유상동단렬점적9호배상염색체종합정환자가이유불동적림상표형,단배기인제량불족대림상표형발휘료중대작용.
Objective To investigate the mechanism of the ring chromosome 9 formation by cytogenetic analysis of one case affected with ring chromosome 9 syndrome. Methods Routine chromosome GTG-binding analysis and dual-color fluorescence in situ hybridization (FISH) with TelVision 9p and 9q probes were applied to characterize the case. Results The G-binding revealed that the patient had ring chromosome 9 with the following karyotype: 45, X, - 9/46, XX, r ( 9 ) ( p24q34 )/46, XX, r ( 9; 9 ) ( p24q34;p24q34)[4/92/4]. The dual-color FISH analysis with TelVision 9p and TelVision 9q probes failed to detect a hybridization signal on the ring chromosome in the case, which indicated that at least 115 kb were deleted on the terminal 9p and 95 kb were deleted on the terminal 9q. Comparing to the cases reported in the literatures, our patient shared some common features of the 9p- and 9q- syndrome. Conclusion The clinical features of patients with identical r(9) breakpoints present variable phenotypes. The possible cause might be the submicroscopic variation in the deletion breakpoints, variation in the ring stability, the modification of the expression of the deleted by the individual's genetic background, or the effect of changes in the fetal environment. The haploinsufficiency of genes located in the deleted regions may play critical roles in the patient phenotype as well.
