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KMID : 1189120180150010034
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대한의학유전학회지
2018 Volume.15 No. 1 p.34 ~ p.37
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1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction
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Kim Yoon-Hwa
Yang Ju-Seok
Lee Young-Joo
Bae Mi-Hye
Park Kyung-Hee
Lee Dong-Hyung
Shin Kyung-Hwa
Kim Seung-Chul
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Abstract
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A 1q21.1 microdeletion is an extremely rare chromosomal abnormality that results in phenotypic diversity and incomplete penetrance. Patients with a 1q21.1 microdeletion exhibit neurological-psychiatric problems, microcephaly, epilepsy, facial dysmorphism, cataract, and thrombocytopenia absent radius syndrome. We reported a neonate with confirmed intrauterine growth restriction (IUGR), micrognathia, glossoptosis, upper airway obstruction, facial dysmorphism, and eye abnormality at birth as well as developmental delay at the age of 1 year. These clinical manifestations, except for the IUGR and upper airway obstruction, in the neonate indicated a 1q21.1 microdeletion. Here, we report a rare case of a 1q21.1 microdeletion obtained via paternal inheritance in a newborn with upper airway obstruction caused by glossoptosis and tracheal stenosis.
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KEYWORD
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Chromosome deletion, 1q21.1 microdeletion syndrome, Microarray analysis
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