title: Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion.
abstract: Pitt-Rogers-Danks syndrome (PRDS) is a rare, presumed autosomal recessive, syndrome with pre- and postnatal growth retardation, microcephaly, characteristic facial appearance, seizures, unusual palmar creases and developmental delay. Since the first description in 1984, only 7 cases have been reported. We report the identification of a 4p microdeletion in 2 new patients, who were previously diagnosed with PRDS, as well as the sibs in Pitt et al. [1984]. PRDS can no longer be considered autosomal recessive. Although our cases are attributable to a microdeletion in 4p16, it is uncertain if the critical region involves a single locus or multiple loci or to what extent this region overlaps with the critical region for Wolf-Hirschhorn syndrome.
authors.affiliation: Department of Genetics, Magee-Womens Hospital, Pittsburgh, PA 15213, USA.
authors.forename: M
authors.initials: M
authors.lastname: Clemens
authors.forename: J T
authors.initials: JT
authors.lastname: Martsolf
authors.forename: J G
authors.initials: JG
authors.lastname: Rogers
authors.forename: P
authors.initials: P
authors.lastname: Mowery-Rushton
authors.forename: U
authors.initials: U
authors.lastname: Surti
authors.forename: E
authors.initials: E
authors.lastname: McPherson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002894:Chromosomes, Human, Pair 4; D015342:DNA Probes; D005145:Face / Q000002:abnormalities; D005260:Female; D017353:Gene Deletion; D005819:Genetic Markers; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers