The natural history of trisomy 12p
The natural history of trisomy 12p
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DOI：
10.1002/ajmg.a.31143
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发表时间：
2006-04-01
影响因子：
2
通讯作者：
Bianchi, DW
中科院分区：
文献类型：
--
作者：
Segel, R;Peter, I;Bianchi, DW
12号染色体短臂三体是一种罕见的染色体异常，估计发生率为1/50，000出生，它可能表现为纯三体（完全或不完全），镶嵌三体或其他染色体异常。从以前的报告中对这些人的自然历史和预期寿命知之甚少。在这项研究中，我们描述了长期的结果和马赛克三体12 p患者之间的差异。与完全三体性的患者相比。我们提出了一个系列的16例12 p三体综合征患者，其中6人年龄超过10岁。大多数患者足月出生，出生体重正常或高于正常。7人出生时有先天性异常，但没有一个异常存在于一个以上的个体。所有受试者都有明显而一致的畸形面部模式。大多数7岁以上的患者有癫痫发作。所有的人都表现出发育迟缓，言语受到的影响比运动技能更严重。6名患者被描述为“社交型”。“6人有严重的行为问题，7人有严重的睡眠障碍。三名成年患者的面部特征与年轻人不同。我们在这里表明，镶嵌三体12 p患者的结果是优于完全三体12 p或三体12 p与其他染色体异常的结果。我们还为12 p三体患者的长期随访提供了建议。(c)2006 Wiley-Liss，Inc.
Trisomy of the short arm of chromosome 12 is a rare chromosomal anomaly, with an estimated incidence of 1/50,000 births, It may, present as a pure trisomy (complete or incomplete), as mosaic trisomy, or with other chromosomal abnormalities. Little is known from prior reports about the natural history and life expectancy of these individuals. In this study we describe the long-term outcome and the differences between patients with mosaic trisomy 12p. compared to patients with complete trisomy. We present a series of 16 patients with trisomy 12p; 6 of them are older than 10 years. Most patients were born at term with normal or above normal birth weight. Seven were born with congenital anomalies, but no single anomaly was present in more than one individual. A clear and consistent dysmorphic facial pattern was apparent in all of the subjects. Most patients over 7 years old had a seizure disorder. All individuals exhibited developmental delay with speech affected more severely that) motor skills. Six patients were described as "being social." Six had severe behavioral problems, and seven had significant sleep disturbances. Facial features of the three adult patients were different than the younger individuals. We show here that the outcome for patients with mosaic trisomy 12p is better than the outcome in complete trisomy 12p or in trisomy 12p with other chromosomal anomalies. We also provide recommendations for the long-term follow-up of patients with trisomy 12p. (c) 2006 Wiley-Liss, Inc.