Mid-trimester hyperechogenic bowel in a fetus of Turkish origin carrying a rarely seen mutation of cystic fibrosis
Archives of Iranian Medicine. 2012; 15 (7): 449-451
in English
| IMEMR
| ID: emr-144529
ABSTRACT
Cystic fibrosis [CF] is one of the most common severe autosomal recessive genetic disorders, characterized primarily by chronic obstructive lung disease and maldigestion disorder. The disease is caused by mutations in the CF transmembrane conductance regulator [CFTR] gene. Here we present a case of a fetus with hyperechogenic bowel, in which compound heterozygosity was established for the mutations p.IIe1000fsX1001 and p.Asp110His subsequent to amniocentesis. The mutations were most likely disease-causing, and pregnancy was terminated
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Pregnancy Trimester, Second
/
Cystic Fibrosis Transmembrane Conductance Regulator
/
Echogenic Bowel
/
Fetus
/
Genes, Recessive
/
Amniocentesis
Type of study:
Case report
Limits:
Female
/
Humans
Language:
English
Journal:
Arch. Iran. Med.
Year:
2012
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