Prenatal diagnosis of a fetus with mosaic ring chromosome 13: Case report and review of the literature.
Taiwan J Obstet Gynecol
; 60(3): 554-558, 2021 May.
Article
en En
| MEDLINE
| ID: mdl-33966748
ABSTRACT
OBJECTIVE:
To diagnose the ring chromosome 13 (r(13)) in a fetus, and analyze the genotype-phenotype correlation. CASE REPORT A 26-year-old woman who was second pregnancy, underwent amniocentesis at 18 weeks of gestation because of the increased nuchal translucency (NT). Prenatal ultrasound showed the NT thickness was 3.5 mm at 12+1 weeks of gestation and nuchal fold (NF) was 6.1 mm at 18 weeks of gestation, and amniotic fluid karyotype analysis revealed mosaic r(13). CMA detected a 16.293 Mb duplication at 13q21.32q31.1 and 31.303 Mb deletion at 13q31.1q34.CONCLUSION:
R(13) is a very rare chromosomal abnormality. Cytogenetic examination combined with CMA can provide accurate diagnosis and effective information for genetic counseling.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trastornos de los Cromosomas
/
Mosaicismo
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Taiwan J Obstet Gynecol
Asunto de la revista:
GINECOLOGIA
/
OBSTETRICIA
Año:
2021
Tipo del documento:
Article
País de afiliación:
China