Prenatal diagnosis of isochromosome 20q in a fetus with vertebral anomaly and rocker-bottom feet.
Taiwan J Obstet Gynecol
; 56(5): 677-680, 2017 Oct.
Article
in En
| MEDLINE
| ID: mdl-29037557
ABSTRACT
OBJECTIVE:
Isochromosome of the long arm of chromosome 20 (i(20q)) is a rare structural abnormality in prenatal diagnosis. Thirty prenatal cases of mosaic i(20q) have been reported, among which only four are associated with fetal malformations. We describe a new prenatal case of i(20q) with fetal malformations. MATERIALS ANDMETHODS:
We also observed a discrepancy between uncultured and cultured amniotic fluid cells by using conventional cytogenetic, fluorescence in situ hybridization and array-SNP analysis.RESULTS:
The short arm deletion of chromosome 20 arising from the isochromosome encompassed two candidate genes PAX1 and JAG1 involved in cranio-facial and vertebral development.CONCLUSION:
The data would allow establishing a phenotype-genotype correlation. Thus, we proposed to define a recognizable syndrome combining cranio-facial dysmorphism, vertebral bodies' anomalies, feet and cerebral malformations.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spine
/
Chromosomes, Human, Pair 20
/
Flatfoot
/
Isochromosomes
/
Chromosome Disorders
Type of study:
Diagnostic_studies
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
Taiwan J Obstet Gynecol
Journal subject:
GINECOLOGIA
/
OBSTETRICIA
Year:
2017
Type:
Article