Microdeletion 22q11.2: clinical data and deletion size
Microdeletion 22q11.2: clinical data and deletion size
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22q11.2 微缺失：临床数据和缺失大小
DOI：
10.1136/jmg.36.9.721
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发表时间：
1997
影响因子：
4
通讯作者：
I. Teshima
中科院分区：
文献类型：
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作者：
W. S. Kerstjens;H. Kurahashi;D. Driscoll;M. Budarf;B. Emanuel;B. Beatty;T. Scheidl;J. Siegel‐Bartelt;K. Henderson;C. Cytrynbaum;G. Nie;I. Teshima
编辑-从1994年1月1日到1997年6月1日，在多伦多患病儿童医院发现了90名微缺失22的先证者。所有患者均经G显带核型分析，除1例新发不平衡易位：45，XY，der(6)t(6；22)(p25；q11.2)/45，XY，der(6)t(6；22)(p25；q11.2)，+f外，其余患者核型均为46，XX或46，XY。FISH分析显示，使用探针N25(马里兰州盖瑟斯堡Oncor)D22S75缺失。对73名先证者的126名父母进行D22S75的FISH分析。这项研究得到了医院研究伦理委员会的批准，并获得了书面知情同意。
对90例患者的临床资料进行回顾性分析。女性45例(50%)，男性45例(50%)。确诊时的中位年龄为5.5岁，其中23例(26%)年龄在1岁以下。身高与年龄的关系低于平均水平，69/85例(81%)低于第50百分位数(5例无数据)。头围小于50百分位者56/80例(70%)(12例无数据)。有腭裂/上鼻音资料者72例，无资料者18例。72例患者中有55例(76%)存在腭部异常或高鼻音，其中28例为无裂的高鼻音，4例为…
Editor—Ninety probands with microdeletion 22 were ascertained at The Hospital for Sick Children, Toronto, between 1 January 1994 and 1 June 1997. All patients had been karyotyped by G banding and were found to have a 46,XX or 46,XY karyotype except for one patient who had a de novo unbalanced translocation: 45,XY,der(6) t(6;22)(p25;q11.2)/45,XY,der(6)t(6;22)(p25;q11.2),+f. The fragment was very small and was not defined. All were shown by FISH analysis to be deleted for D22S75 using probe N25 (Oncor, Gaithersburg, MD). FISH analysis for D22S75 was also performed on 126 parents of 73 probands. The study was approved by the Research Ethics Board of the hospital and written informed consent was obtained.
Clinical data were reviewed retrospectively in 90 cases. Forty five (50%) were female and 45 (50%) male. The median age at diagnosis was 5.5 years, with 23 cases (26%) under the age of 1 year. The height in relation to age was lower than average, with 69/85 cases (81%) being less than the 50th centile (no data in five cases). Head circumference was less than the 50th centile in 56/80 cases (70%) (no data in 12 cases). Data on palatal abnormalities/hypernasal speech were available in 72 cases with no data in 18 cases. Palatal abnormalities/hypernasal speech were found in 55/72 cases (76%): 28 patients had hypernasal speech without cleft, four …
染色体 22q11.2 缺失综合征中的幼年类风湿性关节炎样多发性关节炎（DiGeorge 异常/颚心面综合征/圆锥干异常面综合征）。
影响因子：
--
作者：
Sullivan,KE;McDonald-McGinn,DM;Driscoll,DA;Zmijewski,CM;Ellabban,AS;Reed,L;Emanuel,BS;Zackai,EH;Athreya,BH;Keenan,G
通讯作者：
Keenan,G
影响因子：
56.9
作者：
LICHTER, P;TANG, CJC;WARD, DC
通讯作者：
WARD, DC
影响因子：
9.8
作者：
Carlson, C;Sirotkin, H;Morrow, BE
通讯作者：
Morrow, BE