title: Caudal deficiency sequence in 7q terminal deletion.
abstract: We describe a male infant with signs of caudal deficiency sequence. In addition, he showed growth retardation, microcephaly, prominent forehead, bulbous nose tip, large dysplastic ears, hypospadia, partial sacral agenesis, and neurologic bladder dysfunction. Chromosome examination showed a terminal 7q deletion 46,XY,del(7)(pter----q32:). Four previous reported cases of 7q terminal deletion and signs of caudal deficiency are reviewed. Chromosome aberrations may, at least in some cases, be responsible for developmental defects.
authors.affiliation: Department of Genetics, Academical Hospital Maastricht, State University of Limburg, The Netherlands.
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: J
authors.initials: J
authors.lastname: Schrander
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: G
authors.initials: G
authors.lastname: Hamers
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013116:Spinal Cord / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome