1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction

1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction

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...

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Veröffentlicht in:Journal of genetic medicine 2018-06, Vol.15 (1), p.34-37
Hauptverfasser: 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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container_issue 1
container_start_page 34
container_title Journal of genetic medicine
container_volume 15
creator Kim, Yoon Hwa
Yang, Ju Seok
Lee, Young Joo
Bae, Mi Hye
Park, Kyung Hee
Lee, Dong Hyung
Shin, Kyung-Hwa
Kim, Seung Chul
description 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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title 1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction
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