title: Distal deletion of chromosome 13 in a child with the "opitz" GBBB syndrome.
abstract: We describe a patient who had craniofacial and genitourinary abnormalities, swallowing difficulties, esophageal dysfunction, hypotonia and moderate developmental delay, and who also had a terminal deletion of chromosome 13 (q32.3qter). This MCA pattern strongly suggests the Opitz GBBB syndrome. The deletion of chromosome 13 was interpreted as terminal with a breakpoint at 12q32.3. Coagulation factors VII and X located in 13q34, were markedly reduced in the propositus. Although there is some clinical overlap between patients with terminal deletion of 13q and those with the Opitz GBBB syndrome, our patient manifests a whole pattern of abnormalities characteristics of the latter disorder. The concurrence of the Opitz GBBB syndrome and the chromosome abnormality in our patient could be due to chance or, be because a gene for the Opitz GBBB syndrome is located at the tip of 13q.
authors.affiliation: ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Urioste
authors.forename: I
authors.initials: I
authors.lastname: Arroyo
authors.forename: A
authors.initials: A
authors.lastname: Villa
authors.forename: I
authors.initials: I
authors.lastname: Lorda-Sánchez
authors.forename: R
authors.initials: R
authors.lastname: Barrio
authors.forename: M J
authors.initials: MJ
authors.lastname: López-Cuesta
authors.forename: J
authors.initials: J
authors.lastname: Rueda
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D017353:Gene Deletion; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome