Clinical phenotype and genetic analysis of a child with 14q12q13 microdeletion syndrome manifesting as congenital hypothyroidism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 598-603, 2023.
Article
en Zh
| WPRIM
| ID: wpr-981796
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To analyze the clinical phenotype and genetic etiology for a child featuring congenital hypothyroidism (CH).@*METHODS@#Whole exome sequencing (WES), copy number variation (CNV) sequencing and chromosomal microarray analysis (CMA) were carried out for a newborn infant who had presented at Linyi People's Hospital for CH. Clinical data of the child was analyzed, in addition with a literature review.@*RESULTS@#The main characteristics of the newborn infant had included peculiar face, vulvar edema, hypotonia, psychomotor retardation, recurrent respiratory tract infection with laryngeal wheezing and feeding difficulties. Laboratory test indicated hypothyroidism. WES suggested a CNV deletion on chromosome 14q12q13. CMA further confirmed a 4.12 Mb deletion at chromosome 14q12q13.3 (32649595_36769800), which has encompassed 22 genes including NKX2-1, the pathogenic gene for CH. The same deletion was found in neither of her parents.@*CONCLUSION@#Through the analysis of clinical phenotype and genetic variant, the child was diagnosed with 14q12q13.3 microdeletion syndrome.
Texto completo:
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Índice:
WPRIM
Asunto principal:
Fenotipo
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Síndrome
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Hipotiroidismo Congénito
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Análisis por Micromatrices
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Variaciones en el Número de Copia de ADN
Límite:
Female
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Article