A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature.
J Matern Fetal Neonatal Med
; 34(17): 2918-2922, 2021 Sep.
Article
in En
| MEDLINE
| ID: mdl-31570022
ABSTRACT
Multiple small supernumerary marker chromosomes (sSMCs) are among the rarest cytogenetic abnormalities as they represent roughly 1.4% of cases with sSMCs. We report on a prenatal case presenting de novo multiple sSMCs; these sSMCs were characterized by array CGH and FISH and resulted deriving from three different chromosomes a der(13), a der(15) and a der(20). The co-presence of der(13), der(20), and der(15) have not been reported yet. The clinical consequences of this marker combination cannot be precisely predicted. However, according to the publicly available databases, the partial trisomies of chromosome 13 and 20 have probably a pathogenic effect. It is worth noting that a cooperative effect, due to interactions among genes harbored on the three derivatives, cannot be excluded, making the genetic counseling challenging.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 13
/
Chromosome Aberrations
Limits:
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
J Matern Fetal Neonatal Med
Journal subject:
OBSTETRICIA
/
PERINATOLOGIA
Year:
2021
Document type:
Article
Affiliation country:
Italy