Prenatal diagnosis and molecular genetic studies on a new case of agnathia-otocephaly.
Fetal Pediatr Pathol
; 29(4): 207-11, 2010.
Article
in En
| MEDLINE
| ID: mdl-20594144
ABSTRACT
Otocephaly is a severe and lethal malformation. We report a new case of a fetus with agnathia-otocephaly, presenting only the facial findings but with otherwise normal organs. The fetal karyotype was normal. We examined the fetal DNA for uniparental disomy of chromosomes 3 and 4, since the mother is a carrier of a t(3;4) chromosome, but did not identify any evidence. We were also unable to find mutations or possible associations with candidate otocephalic genes, including OTX2 and PGAP1. These findings suggest that the molecular etiology of agnathia-otocephaly is still unknown with a mutation yet to be identified in humans.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
DNA Mutational Analysis
/
Phosphoric Monoester Hydrolases
/
Maxillofacial Abnormalities
/
Ear
/
Otx Transcription Factors
/
Membrane Proteins
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Language:
En
Journal:
Fetal Pediatr Pathol
Journal subject:
PATOLOGIA
/
PEDIATRIA
Year:
2010
Document type:
Article
Affiliation country:
Canada