Interstitial deletion of the short arm of chromosome 3 (3p14).
Deletions of 3p usually involve the terminal portion (3p25). An interstitial deletion of a proximal 3p segment (3p14) was detected at amniocentesis. The clinical and cytogenetic characteristics of this case and of three previously published cases are reviewed. Cardiovascular and gastrointestinal malformations have not been reported before in association with this particular chromosome abnormality.
D000328:Adult; D000649:Amniocentesis; D000818:Animals; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D006224:Cricetinae; D005260:Female; D005333:Fetus / Q000473:pathology; D006801:Humans; D008297:Male; D011247:Pregnancy