Prenatal diagnosis and genetic analysis of a special case with complex structural rearrangements of chromosome 8 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1181-1184, 2023.
Article
em Zh
| WPRIM
| ID: wpr-1009273
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8.@*METHODS@#Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness.@*RESULTS@#The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3].@*CONCLUSION@#The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
/
Cromossomos Humanos Par 8
/
Rearranjo Gênico
/
Centrômero
/
Hibridização in Situ Fluorescente
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2023
Tipo de documento:
Article