[Syndrome of terminal deletion of the long arm of chromosome 4. Apropos of a personal case with a review of the literature].
With one personal case and thirteen cases from literature about distal deletion of the long arm of chromosome 4 (4 q-), authors try to describe a clinical syndrome related to deletion of segment 4 q 31 leads to q ter. This syndrome includes a normal intrauterine growth, a growth and mental retardation. Morphological abnormalities consist in microcephaly, palato-cheiloschisis with micrognathia, hypertelorism with epicanthald folds, large nose bridge with anteverted nases, various anomalies of ears; clinodactily of Vth finger and toe, various cardiac defects. New banding techniques (prometaphase) have led to more precise delineation of break point, but this very distal deletion could not bring any new information for the gene mapping.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5 / Q000648:ultrastructure*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome
Le syndrome de deletion terminale du bras long du chromosome 4. A propos d'un cas personnel avec revue de la litterature.