Brief clinical report: neural tube defects in dup(11q).
We describe clinically and cytogenetically a fetus with multiple congenital anomalies and partial dup(11q) born to a phenotypically normal mother with a 3:1 translocation. Fetal anomalies included complete cleft of lip and palate, small penis, myelomenigocele, and abnormal palmar creases. We think chromosome analysis should be performed when neural tube defects are observed in otherwise dysmorphic neonates, stillbirths, and abortuses.
D000015:Abnormalities, Multiple / Q000235:genetics; D000032:Abortion, Therapeutic; D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009436:Neural Tube Defects / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy