Oh Albert K, Workman Laura A, Wong Granger B
Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Cleft Palate Craniofac J. 2007 Jan;44(1):62-6. doi: 10.1597/05-192.
To identify characteristics associated with microdeletions of chromosome 22q11.2 ascertained by fluorescent in situ hybridization (FISH) analysis in patients with velopharyngeal insufficiency (VPI), cleft palate, or other clinical features of velocardiofacial syndrome (VCFS).
DESIGN/SETTING: Retrospective review of all patients entered at one tertiary-level multidisciplinary cleft lip and palate and craniofacial anomalies panel from January 2000 to December 2003.
The study consisted of 115 patients. The presence or absence of the following clinical features was documented: cleft palate (submucous and overt), VPI, cardiac anomalies, renal anomalies, small stature, characteristic facies, developmental delay, psychiatric dysfunction, and family history.
Correlation between presence or absence of clinical features of VCFS and presence or absence of 22q11.2 microdeletion by FISH analysis.
Of the 16 patients (13.9%) who demonstrated 22q11.2 microdeletion by FISH analysis, 16 had VPI (100%), 16 had small stature (100%), 14 had cleft palate (88%), and 13 had characteristic facies (81%). Developmental delay was also present in 13 of these patients (81%), and seven had cardiac anomalies (44%). Multiple regression analysis revealed that the presence of characteristic facies and small stature statistically correlated with microdeletions of chromosome 22q11.2 by FISH studies (p < .05).
Patients with microdeletions of chromosome 22q11.2 as demonstrated by FISH analysis were more likely to have VPI, small stature, cleft palate, characteristic facies, and developmental delay, in descending order. Statistical analysis showed that only characteristic facies and small stature correlated with 22q11.2 microdeletions.
通过荧光原位杂交（FISH）分析，确定腭咽闭合不全（VPI）、腭裂或其他腭心面综合征（VCFS）临床特征患者中与22q11.2染色体微缺失相关的特征。
设计/地点：对2000年1月至2003年12月在一个三级多学科唇腭裂和颅面畸形小组登记的所有患者进行回顾性研究。
该研究包括115名患者。记录了以下临床特征的有无：腭裂（黏膜下腭裂和显性腭裂）、VPI、心脏异常、肾脏异常、身材矮小、特征性面容、发育迟缓、精神功能障碍和家族史。
VCFS临床特征的有无与FISH分析检测到的22q11.2微缺失的有无之间的相关性。
在通过FISH分析显示有22q11.2微缺失的16名患者（13.9%）中，16名有VPI（100%），16名身材矮小（100%），14名有腭裂（88%），13名有特征性面容（81%）。这些患者中有13名（81%）也有发育迟缓，7名有心脏异常（44%）。多元回归分析显示，特征性面容和身材矮小的存在与FISH研究中22q11.2染色体微缺失在统计学上相关（p < 0.05）。
FISH分析显示有22q11.2染色体微缺失的患者按可能性从高到低更有可能患有VPI、身材矮小、腭裂、特征性面容和发育迟缓。统计分析表明，只有特征性面容和身材矮小与22q11.2微缺失相关。
