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首页> 外文期刊>Genetics and Molecular Research >Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly
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Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly

机译：低位三体性14镶嵌术在男性患有外rod症

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Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesarean section due to gestational hypertension and chronic fetal distress. The length of the term pregnancy was 37 weeks, the birth weight was 3.105 g, the length was 48 cm, and the head circumference was 35.5 cm. The baby remained hospitalized for 19 days in the neonatal intensive care unit due to respiratory distress syndrome and congenital malformations. Physical examination revealed a toned and normal activity, followed by phenotypic changes such as a broader forehead, formation of a cleft palate, hypertelorism, low-set ears, bilateral cryptorchidism, absence of the second toe of the left foot (ectrodactyly), and fusion of third and fourth toes in the right foot (bilateral syndactyly). Cytogenetic analysis was performed on peripheral blood cultures after hospitalization in the neonatal intensive care unit. Analysis of 200 G-banded metaphases showed that 192 (96%) had normal karyotype 46,XY and only 8 (4%) presented trisomy 47,XY,+14. It was not possible to perform cytogenetic analysis on the patient’s parents. Our patient represents the first case of trisomy 14 disorder to present ectrodactyly.
机译：完全三体14镶嵌症是一种罕见的染色体疾病，于1970年首次报道。我们描述了一个男性新生儿的病例，该病例仅在4％的外周血细胞中表现出完全14体三镶嵌症。第二次怀孕导致一名19天大的男性新生儿出生。婴儿由于妊娠高血压和慢性胎儿窘迫而被剖宫产。足月妊娠的时间为37周，出生体重为3.105 g，长度为48 cm，头围为35.5 cm。由于呼吸窘迫综合征和先天性畸形，婴儿在新生儿重症监护室住院了19天。体格检查显示活动活跃且正常，随后出现表型改变，例如前额更宽，formation裂形成，肢端肥大，耳朵低落，双侧隐睾，左脚第二个脚趾（外rod）和融合右脚的第三和第四脚趾（双侧合脚）。新生儿重症监护病房住院后，对外周血培养物进行了细胞遗传学分析。对200个G带状中期进行的分析显示，有192个（96％）的核型为46，XY正常，只有8个（4％）的三体性为47，XY，+ 14。无法对患者的父母进行细胞遗传学分析。我们的患者代表了第14三体性疾病的首发病例。

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