Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers.
Congenital heart defect (CHD) is the most common form of birth defects. There is a high association between increased nuchal translucency and CHD in fetuses, and CHD in the antenatal period has a high incidence of 22q11.2 deletion syndrome (22q11.2DS). Apart from 22q11.2DS, the BRUNOL3 gene at 10p14 is also associated with DiGeorge-like features. We studied a total of 110 pre- and postnatal CHD cases with FISH probes. 22q11.2DS was detected in 5 cases and 10p14 deletion in 1 case. Antenatally diagnosed cases of CHD should be investigated by karyotyping and 22q11.2DS testing. Cases with increased nuchal translucency, intrauterine growth retardation, and other non-cardiac malformations because of 22q11.2DS should be screened carefully for thymus dysgenesis. It is also advisable to screen patients referred for 22q11.2DS for a 10p14 deletion, therefore enabling appropriate parental counseling.
Department of Medical Genetics, Manipal Hospital, Bangalore, India.
Mitesh
M
Shetty
Ambika
A
Srikanth
Jayarama
J
Kadandale
Sridevi
S
Hegde
D000015:Abnormalities, Multiple / Q000235:genetics; D015415:Biomarkers; D000067878:CELF Proteins / Q000235:genetics; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D059785:Karyotype; D009419:Nerve Tissue Proteins / Q000235:genetics; D011296:Prenatal Diagnosis; D055815:Young Adult
D015415:Biomarkers; D000067878:CELF Proteins; C117363:CELF2 protein, human; D009419:Nerve Tissue Proteins