Muñoz S, Garay F, Flores I, Heusser F, Talesnik E, Aracena M, Mellado C, Méndez C, Arnaiz P, Repetto G
Departamento de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile y Servicio de Pediatría, Hospital Sótero del Río, Santiago de Chile.
Rev Med Chil. 2001 May;129(5):515-21.
DiGeorge anomaly, velocardiofacial syndrome and conotruncal anomaly face syndrome are part of a group of congenital malformations of the chromosome 22q11 microdeletion syndrome, since they share certain phenotypic features as well as a common genetic abnormality. The malformations include mild facial dysmorphic features, conotruncal heart defects, thymic and parathyroid hypoplasia or aplasia and cleft palate.
To describe the initial clinical presentation of children with clinical and molecular diagnosis of 22q11 microdeletion.
Ten children (seven male) with the phenotypic features of 22q11 microdeletion syndrome are reported. Microdeletion was detected in peripheral lymphocytes by fluorescent in situ hybridisation (FISH) with the TUPLE-1 DNA probe.
Two children had abnormal karyotypes, one of them had a visible deletion and another child had an unbalanced translocation inherited from his mother who had a balanced translocation between chromosomes 14 and 22. Two of the 10 patients had an anterior laryngeal web, a malformation infrequently described in this syndrome. Five patients had the diagnosis of DiGeorge anomaly, had a more serious clinical presentation and a higher early mortality.
The high frequency of the 22q11 microdeletion syndrome, estimated at 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications.
迪乔治综合征、心脏颜面综合征和圆锥动脉干异常面容综合征是22q11微缺失综合征这一先天性畸形组的一部分，因为它们具有某些共同的表型特征以及共同的基因异常。这些畸形包括轻度面部畸形特征、圆锥动脉干心脏缺陷、胸腺和甲状旁腺发育不全或发育不良以及腭裂。
描述经临床和分子诊断为22q11微缺失的儿童的初始临床表现。
报告了10名具有22q11微缺失综合征表型特征的儿童（7名男性）。通过使用TUPLE-1 DNA探针的荧光原位杂交（FISH）在外周血淋巴细胞中检测到微缺失。
两名儿童核型异常，其中一名有可见的缺失，另一名儿童有从其母亲遗传的不平衡易位，其母亲在14号和22号染色体之间有平衡易位。10名患者中有两名患有先天性喉蹼，这是该综合征中很少描述的一种畸形。5名患者被诊断为迪乔治综合征，临床表现更严重，早期死亡率更高。
22q11微缺失综合征的发生率估计为1/5000新生儿，其表现多样，需要高度警惕以便早期诊断并对相关并发症进行适当处理。
