Kleefstra syndrome 1 and ring chromosome 9 in a case / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 837-840, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-776793
ABSTRACT
OBJECTIVE@#To analyze the clinical and molecular genetic characteristics of patient with Kleefstra syndrome 1.@*METHODS@#Clinical data, chromosomal karyotype and whole genome copy number variations (CNVs) of the patient were analyzed.@*RESULTS@#The patient was found to have a karyotype of 45,XX,-9[4]/46,XX,r(9)(p24q34)[56]. Whole-genome CNVs detection revealed that she has carried a heterozygous deletion of approximately 670 kb at 9q34.3, which encompassed the entire EHMT1 gene. The region is strongly associated with Kleefstra syndrome (1/9q telomere deletion). In addition, the patient also had heterozygous deletion of 9pter, which may predispose to formation of ring chromosome 9.@*CONCLUSION@#The child was diagnosed with Kleefstra syndrome type 1 in conjunct with ring chromosome 9.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Cromosomas en Anillo
/
Cromosomas Humanos Par 9
/
Deleción Cromosómica
/
Anomalías Craneofaciales
/
Variaciones en el Número de Copia de ADN
/
Genética
/
Cardiopatías Congénitas
/
Discapacidad Intelectual
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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