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首页> 外文期刊>Case Reports in Genetics >Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism
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Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

机译：与三体性10镶嵌术相关的双侧ct肌和Rad骨发育不全的产前诊断

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Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks’ gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy.
机译：手足或脚畸形（SHFM）是四肢的罕见畸形，特征是手脚正中c裂，趾骨发育不全和/或趾骨发育不全。它们代表了临床和遗传上的异质性疾病，包括散发性和家族性病例。迄今为止，在某些形式的SHFM中鉴定出的大多数基因组重排都是常染色体显性性状，涉及各个染色体区域。双边放射状射线缺陷还包括一大类异质性疾病，包括18三体性疾病，范可尼贫血和血小板减少症-radi骨综合征，通常与外生殖器不相关。本文描述了一例在妊娠早期三个月受三体性疾病影响的胎儿中与双侧radial骨射线缺陷相关的病例，只有10例在妊娠14至22周之间通过超声检查确诊为散发性和分离性直肠外畸形。 ， 已经报道。据我们所知，本病例是与SHFM和radial骨发育不全相关的镶嵌三体性10的首次报道。 10三体综合征是一种罕见的致命染色体异常，最常见于流产产品中。据报道，只有六个活泼的马赛克三体性10婴儿，畸形严重，在婴儿早期死亡。可以定义一种严重的临床综合征，包括耳朵异常，唇/ pal裂，眼睛，心脏和肾脏的畸形以及手脚的畸形，通常与新生儿或婴儿早期死亡有关。

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