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首页> 外文期刊>Genetics and molecular biology: publication of the Sociedade Brasileira de Genetica >Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
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Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay

机译：患者中的非马赛克部分复制12p，具有疑难垂特性和发育延迟

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Abstract Duplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses and genotype-phenotype correlation in a patient with facial dysmorphism, developmental delay and intellectual impairment caused by non-mosaic partial duplication and a paracentric inversion 12p. The patient’s GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32::p11.1 → p13.31::p13.31 → qter). A genetic gain of approximately 28 Mb was detected in the chromosomal region arr[GRCh37]12p13.31-p11.1(6914072_34756209)x3. The chromosomal alteration seen in our patient is described as “pure” partial duplication 12p. In most cases, duplication 12p phenotype is characterized by dysmorphic features, multiple congenital anomalies and intellectual disability. A small number of cases in literature have described genes associated with neurodevelopmental disease, such as ING4, CHD4, MFAP5, GRIN2B, SOX5, SCN8A and PIANP. In our patient the duplication 12p was de novo. This study should contribute to the genotype-phenotype correlation in partial duplication 12p cases.
机译：摘要染色体短臂12的重复是稀有染色体异常，可能会出现Novo或由均衡的父母易位的错误组成。该研究包括患者患者患者的临床描述，细胞遗传学和细胞素分析和基因型 - 表型相关性，由非马赛克部分复制和奇谐反转12p引起的面部钝象，发育延迟和智力损害。患者的GTG带状核型为46，XX，INVDUP（12）（PETER→P13.32 :: P11.1→P13.31 :: P13.31→QTER）。在染色体区域ARR [GRCH 37] 12P13.31-P11.1（6914072_34756209）X3中检测到约28mb的遗传增益。在我们患者中看到的染色体改变被描述为“纯”部分复制12P。在大多数情况下，复制12P表型特征在于疑似特征，多重先天性异常和智力残疾。文献中的少数病例描述了与神经发育疾病相关的基因，例如ING4，CHD4，MFAP5，GRIN2B，SOX5，SCN8A和PIANP。在我们的患者中，重复12P是De Novo。该研究应该有助于部分复制12P例中的基因型表型相关性。

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