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KMID : 1101620210320020100
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Perinatology
2021 Volume.32 No. 2 p.100 ~ p.103
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Trisomy 9 Mosaicism in an Extremely Low Birth Weight Infant
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Cho Han-Nah
Heo Ju-Sun
Ahn Ki-Hoon
Hong Soon-Cheol
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Abstract
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Trisomy 9 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. In this report, we present an extremely low birth weight (ELBW) infant with trisomy 9 mosaicism. A male preterm infant born at 31+3 weeks of gestation, weighing 922 g, was delivered by cesarean section. Prenatal findings revealed severe intrauterine growth restriction and oligohydramnios. The result of non-invasive prenatal test was a low risk for chromosomal anomalies including trisomy 9. After birth, dysmorphic features were present, such as microcephaly, palpebral fissure, low set ears, a bulbous nose, micrognathia, and a high-arched palate. He also had a single umbilical artery, bilateral inguinal hernia, and cryptorchidism. Intra-organ evaluation revealed ventriculomegaly, mesocardia, absent right brachiocephalic trunk with double superior vena cava, and bilateral renal hypoplasia. He needed the respiratory support of a humidified high-flow nasal cannula until 4 months of corrected age. He had feeding difficulties requiring tube feeding because of poor oral sucking. The result of a postnatal chromosome study confirmed trisomy 9 mosaicism. To the best of our knowledge, this is the first case of an ELBW infant with trisomy 9 mosaicism in South Korea.
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KEYWORD
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Chromosome 9, trisomy mosaic, Infant, Extremely low birth weight, Congenital abnormalities
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