Manning Melanie A, Cassidy Suzanne B, Clericuzio Carol, Cherry Athena M, Schwartz Stuart, Hudgins Louanne, Enns Gregory M, Hoyme H Eugene
Department of Pediatrics, Division of Medical Genetics, H-315, Stanford University School of Medicine, Stanford, California 94305-5208, USA.
Pediatrics. 2004 Aug;114(2):451-7. doi: 10.1542/peds.114.2.451.
Cryptic subtelomeric chromosome rearrangements account for 6% to 10% of idiopathic mental retardation. As cytogenetic and molecular techniques have become more sophisticated, the number of genetic syndromes attributed to these microdeletions has increased. To date, 64 patients have been described in the literature with a more recently recognized microdeletion syndrome, del 22q13.3. The purpose of this study is to present 11 new cases of this recently described syndrome to delineate further the phenotype and to alert the clinician to another genetic condition that should be considered in the differential diagnosis of early hypotonia, delayed speech acquisition, and autistic behavior.
Eleven patients were evaluated in 3 academic institutions. Clinical features and results of cytogenetic testing were recorded and tabulated. Reasons for referral for genetic evaluation included developmental delay, severe expressive speech and language delay, and dysmorphic features.
Age of presentation ranged from 5 months to 46 years. There were 10 female patients and 1 male patient. All of the patients exhibited delayed motor development, some degree of hypotonia, and severe expressive speech and language delay. Dysmorphic facial features included epicanthal folds, large cupped ears, underdeveloped philtrum, loss of cupid's bow, and full supraorbital ridges. Six patients exhibited autistic-like behaviors. Microscopically visible chromosome deletions were observed in 6 patients. In the remainder, the deletion was detected with the use of fluorescence in situ hybridization.
Hypotonia and developmental delay are nonspecific findings observed in many malformation and genetic syndromes. However, in association with severe speech and language delay and autistic-like behavior, this phenotype may be a significant indication to consider the 22q13 deletion syndrome as a potential cause.
隐匿性亚端粒染色体重排占特发性智力低下的6%至10%。随着细胞遗传学和分子技术变得更加精密，归因于这些微缺失的遗传综合征数量有所增加。迄今为止，文献中已描述了64例患有最近才被认识的微缺失综合征——22q13.3缺失的患者。本研究的目的是呈现11例这种最近描述的综合征的新病例，以进一步描绘其表型，并提醒临床医生在对早期肌张力减退、语言习得延迟和自闭症行为进行鉴别诊断时应考虑的另一种遗传状况。
在3家学术机构对11例患者进行了评估。记录并列表整理了临床特征和细胞遗传学检测结果。进行遗传评估的转诊原因包括发育迟缓、严重的表达性言语和语言延迟以及畸形特征。
发病年龄从5个月至46岁不等。有10例女性患者和1例男性患者。所有患者均表现出运动发育延迟、某种程度的肌张力减退以及严重的表达性言语和语言延迟。面部畸形特征包括内眦赘皮、大杯状耳、人中发育不全、唇弓消失以及眶上嵴饱满。6例患者表现出自闭症样行为。6例患者观察到显微镜下可见的染色体缺失。其余患者通过荧光原位杂交检测到缺失。
肌张力减退和发育延迟是在许多畸形和遗传综合征中观察到的非特异性表现。然而，与严重的言语和语言延迟以及自闭症样行为相关联时，这种表型可能是将22q13缺失综合征视为潜在病因的重要指征。
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