中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
3期
247-250
,共4页
肖冰%张静敏%季星%蒋雯婷%胡娟%陶炯
肖冰%張靜敏%季星%蔣雯婷%鬍娟%陶炯
초빙%장정민%계성%장문정%호연%도형
智力低下%8p部分三体%插入易位%平衡易位%比较基因组杂交芯片
智力低下%8p部分三體%插入易位%平衡易位%比較基因組雜交芯片
지력저하%8p부분삼체%삽입역위%평형역위%비교기인조잡교심편
mental retardation%partial trisomy 8p%insertion translocation%reciprocal translocation%array comparative genomic hybridization
目的 明确两例智力低下患儿8号染色体短臂异常性质和来源,分析其染色体改变与表型的相关性.方法 首先应用常规G显带分析2例患儿及父母外周血染色体改变,然后应用比较基因组杂交芯片(array comparative genomic hybridization,array CGH)对其中1例常规核型分析的结果进行精确定位.结果 例1母亲的染色体改变为8p和3q的平衡插入易位,该患儿继承了母亲的1条衍生3号染色体,核型为46,XX,der(3) inv ins (3;8)(q25.3;p23.1p11.2)mat,导致8p部分三体.Array CGH分析显示重复区域为8p11.21-8p22,片段大小为26.9 Mb,该患儿主要表现为智力低下,未见其他8p三体的典型临床特征.例2父亲的核型为8p和11q的平衡易位,该患儿继承了父亲的1条衍生11号染色体,核型为46,XX,der(11)t(8;11)(p11.2;q25)pat,临床表现为智力低下,特殊面容,同时伴有先天性心脏病和骨骼异常,与典型8p三体表型相似,但面容特征不典型.结论 8p部分三体是2例患儿异常表型的主要原因,但与典型的8p三体相比,表型存在异质性;父母染色体分析可以帮助明确易位的性质从而有利于再发风险评估;与传统的细胞遗传学分析方法相比,arrayCGH在染色体异常分析中具有更高的分辨率和准确性.
目的 明確兩例智力低下患兒8號染色體短臂異常性質和來源,分析其染色體改變與錶型的相關性.方法 首先應用常規G顯帶分析2例患兒及父母外週血染色體改變,然後應用比較基因組雜交芯片(array comparative genomic hybridization,array CGH)對其中1例常規覈型分析的結果進行精確定位.結果 例1母親的染色體改變為8p和3q的平衡插入易位,該患兒繼承瞭母親的1條衍生3號染色體,覈型為46,XX,der(3) inv ins (3;8)(q25.3;p23.1p11.2)mat,導緻8p部分三體.Array CGH分析顯示重複區域為8p11.21-8p22,片段大小為26.9 Mb,該患兒主要錶現為智力低下,未見其他8p三體的典型臨床特徵.例2父親的覈型為8p和11q的平衡易位,該患兒繼承瞭父親的1條衍生11號染色體,覈型為46,XX,der(11)t(8;11)(p11.2;q25)pat,臨床錶現為智力低下,特殊麵容,同時伴有先天性心髒病和骨骼異常,與典型8p三體錶型相似,但麵容特徵不典型.結論 8p部分三體是2例患兒異常錶型的主要原因,但與典型的8p三體相比,錶型存在異質性;父母染色體分析可以幫助明確易位的性質從而有利于再髮風險評估;與傳統的細胞遺傳學分析方法相比,arrayCGH在染色體異常分析中具有更高的分辨率和準確性.
목적 명학량례지력저하환인8호염색체단비이상성질화래원,분석기염색체개변여표형적상관성.방법 수선응용상규G현대분석2례환인급부모외주혈염색체개변,연후응용비교기인조잡교심편(array comparative genomic hybridization,array CGH)대기중1례상규핵형분석적결과진행정학정위.결과 례1모친적염색체개변위8p화3q적평형삽입역위,해환인계승료모친적1조연생3호염색체,핵형위46,XX,der(3) inv ins (3;8)(q25.3;p23.1p11.2)mat,도치8p부분삼체.Array CGH분석현시중복구역위8p11.21-8p22,편단대소위26.9 Mb,해환인주요표현위지력저하,미견기타8p삼체적전형림상특정.례2부친적핵형위8p화11q적평형역위,해환인계승료부친적1조연생11호염색체,핵형위46,XX,der(11)t(8;11)(p11.2;q25)pat,림상표현위지력저하,특수면용,동시반유선천성심장병화골격이상,여전형8p삼체표형상사,단면용특정불전형.결론 8p부분삼체시2례환인이상표형적주요원인,단여전형적8p삼체상비,표형존재이질성;부모염색체분석가이방조명학역위적성질종이유리우재발풍험평고;여전통적세포유전학분석방법상비,arrayCGH재염색체이상분석중구유경고적분변솔화준학성.
Objective To determine the origin of aberrant chromosomes involving the short arm of chromosome 8 in two mentally retarded children, and to correlate the karyotype with abnormal phenotype. Methods Routine G-banding was performed to analyze the karyotypes of the two patients and their parents, and array comparative genomic hybridization (array CGH) was used for the first patient for fine mapping of the aberrant region. Results The first patient presented with only mental retardation. The father had normal karyotype. The mother had an apparent insertion translocation involving chromosomes 8 and 3 [46,XX, inv ins (3;8) (q25.3;p23.1p11.2)], the karyotype of the child was ascertained as 46,XX,der(3) inv ins (3;8)(q25.3;p23.1p11.2). Array CGH finely mapped the duplication to 8p11.21-8p22, a 26.9Mb region. The other patient presented with mental retardation, craniofacial defects, congenital heart disease and minor skeletal abnormality. The mother had normal karyotype. The father had an apparently balanced translocation involving chromosome 8p and 11q, the karyotype was 46,XY, t(8;11)(p11.2;q25). The karyotype of the child was then ascertained as 46,XX,der(11)t(8;11)(p11.2;q25). Conclusion These results suggested that partial trisomy 8p was primary cause for the phenotypic abnormalities of the two patients, whereas a mild phenotypic effect was observed in patient 1. Parental karyotype analysis could help define the aberrant type and recurrent risk evaluation. In contract to routine karyotype analysis, aberrant regions could be mapped by array CGH with higher resolution and accuracy.
