Cytogenetic and molecular characterization of a patient with partial 6q trisomy and 1q monosomy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 231-234, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-247699
ABSTRACT
<p><b>OBJECTIVE</b>To analyze a girl with moderate mental retardation and speech and language disorders with cytogenetics technique and next-generation sequencing (NGS).</p><p><b>METHODS</b>G-banding chromosome analysis was used to ascertain the karyotype of the child and her parents, and NGS was used for determining the size and origin of the abnormal chromosome fragment. Mate-pair and PCR were used to determine its parental origin.</p><p><b>RESULTS</b>The karyotype of the child was determined to be 46,XX,add(1)(q44)dn, while her parents were both normal. NGS revealed that the child has harbored a partial trisomy of 6q24.3-q27, and the breakpoint was mapped to at 6q24.3q27. In addition, a 2.5 Mb microdeletion at 1q44 was found in the patient.</p><p><b>CONCLUSION</b>No recognizable phenotype was associated with 1q44 deletion. The abnormal phenotypes presented by the child may be attributed to the 6q24.3-q27 triplication. Compared with conventional cytogenetic analysis, NGS has a much higher resolution and great accuracy.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Trissomia
/
Cromossomos Humanos Par 1
/
Cromossomos Humanos Par 6
/
Bandeamento Cromossômico
/
Hibridização in Situ Fluorescente
/
Transtornos Cromossômicos
/
Genética
/
Deficiência Intelectual
/
Monossomia
Limite:
Adulto
/
Criança
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS