Chromosome 7 short arm deletion, 7p21----pter.
A case report of a de novo deletion in the short arm of chromosome 7 is presented (46,XX,del(7)(p21----pter)). The five-month-old girl's major symptoms are: trigonocephalus with craniosynostosis, median bony forehead bulge, high palate, atrial septal defect, anal atresia and perineal fistula, thumb insertion far to ulnar-proximal, and a slightly retarded psychomotor development. The other cases with monosomy 7p described in the literature are reviewed.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D003398:Craniosynostoses / Q000235:genetics* / Q000473:pathology; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology