1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction
Journal of Genetic Medicine
; : 34-37, 2018.
Article
em En
| WPRIM
| ID: wpr-715202
Biblioteca responsável:
WPRO
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Rádio (Anatomia)
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Trombocitopenia
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Estenose Traqueal
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Testamentos
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Catarata
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Anormalidades do Olho
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Aberrações Cromossômicas
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Deleção Cromossômica
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Penetrância
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Parto
Limite:
Humans
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Newborn
Idioma:
En
Revista:
Journal of Genetic Medicine
Ano de publicação:
2018
Tipo de documento:
Article