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首页> 外文期刊>Journal of genetics >Hypotonic infant with Pallister-Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations
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Hypotonic infant with Pallister-Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations

机译：用细胞遗传学微阵列诊断术的口岸杀螨综合征，没有颜料皮肤的变化和畸形

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摘要

Pallister-Killian syndrome (PKS) is a rare genetic developmental disorder characterized, by intellectual disability, seizures, streaks of hypo- or hyperpigmentation and characteristic dysmorphic features. PKS is characterized by the presence of cytogenetic abnormality in form of a supernumerary isochromosome 12p, in a tissue limited mosaicism. The isochromosome 12p is usually not detected in karyotype done from peripheral blood. Presence of patchy pigmentary skin lesions suggest the possibility of mosaicism and karyotype from skin is done which clinches the diagnosis. We describe an infant with severe hypotonia in whom trisomy 12p was detected by chromosomal microarray performed on peripheral blood. The karyotype from blood was normal and combining this information with three copies of 12p in microarray suggests the possibility of tetrasomy12p in mosaic form. The infant did not have any skin patchy pigmentary changes and malformations and hence, the diagnosis of PKS was not clinically suspected. Cytogenetic microarray is the first test for evaluation of cases with developmental delay and intellectual disability, PKS diagnosis may come as a surprise in unsuspected cases without characteristic skin pigmentary abnormality and malformations.
机译：Pallister-Killian综合征（PKS）是一种罕见的遗传性发育障碍，其特征为智力残疾、癫痫发作、色素沉着过少或过多以及特征性畸形。PKS的特征是存在细胞遗传学异常，其形式为组织局限性嵌合体中的额外等色染色体12p。外周血核型中通常未检测到12p等色体。斑片状色素性皮损的存在表明皮肤可能存在镶嵌现象，并进行了染色体核型分析，从而确诊。我们描述了一名患有严重张力过低的婴儿，通过外周血染色体微阵列检测到12p三体。血液中的核型是正常的，结合微阵列中的三份12p拷贝，这一信息表明可能存在镶嵌形式的四体12p。婴儿没有任何皮肤斑片状色素变化和畸形，因此，临床上没有怀疑PKS的诊断。细胞遗传学微阵列是第一个用于评估发育迟缓和智力残疾患者的测试，对于没有特征性皮肤色素异常和畸形的意外病例，PKS的诊断可能令人惊讶。

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