22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay
22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay
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DOI：
10.1002/ajmg.c.30155
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发表时间：
2007-11-15
影响因子：
3.1
通讯作者：
Hoyme, H. Eugene
中科院分区：
文献类型：
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作者：
Cusmano-Ozog, Kristina;Manning, Melanie A.;Hoyme, H. Eugene
22q13.3缺失综合征是一种可识别的畸形综合征，与发育迟缓、低肌紧张、言语延迟或缺失、自闭症样行为、正常到加速生长和畸形相相关。这种疾病的患病率尚不清楚，但很可能未得到充分诊断。诊断年龄差别很大，从产前诊断到46岁不等。男性和女性同样受到影响。通过常规或高分辨率染色体分析偶尔可以检测到远端22q缺失；然而，大多数病例是通过FISH分析检测到的，这与在对心面综合征进行FISH分析时缺失ARSA（对照）探针有关（del 22q11.2）。22q13.3缺失综合征可伴有简单染色体缺失、不平衡易位或环状染色体。初级保健医生，除了许多专家，在照顾患有这种疾病的患者方面发挥着重要作用。虽然在这种情况下观察到的畸形特征是非特异性的，但对于发育迟缓、张力低下、明显的言语和语言障碍、自闭症样特征、多种轻微异常、生长和头围正常的儿童的鉴别诊断是一个重要的考虑因素。(c) 2007 Wiley-Liss, Inc。
The 22q13.3 deletion syndrome is a recognizable malformation syndrome associated with developmental delay, hypotonia, delayed or absent speech, autistic-like behavior, normal to accelerated growth and dysmorphic facies. The prevalence of this disorder is unknown, but it is likely under-diagnosed. Age at diagnosis has varied widely, from cases diagnosed prenatally to 46 years. Males and females are equally affected. The distal 22q deletion can be detected occasionally by routine or high resolution chromosome analysis; however, the majority of cases are detected by FISH analysis, associated with deletion of the ARSA (control) probe when performing a FISH analysis for the velocardiofacial syndrome (del 22q11.2). The 22q13.3 deletion syndrome can accompany a simple chromosome deletion, an unbalanced translocation, or a ring chromosome. Primary care physicians, in addition to numerous specialists, play an important role in caring for patients with this disorder. Although the dysmorphic features observed in this condition are nonspecific, it is an important consideration in the differential diagnosis of children with developmental delay, hypotonia, marked speech and language disability, autistic-like features, multiple minor anomalies, and normal growth and head circumference. (c) 2007 Wiley-Liss, Inc.