Back to Search
Start Over
Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion.
- Source :
-
American journal of medical genetics [Am J Med Genet] 1996 Dec 02; Vol. 66 (1), pp. 95-100. - Publication Year :
- 1996
-
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.
Details
- Language :
- English
- ISSN :
- 0148-7299
- Volume :
- 66
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 8957524
- Full Text :
- https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1<95::AID-AJMG26>3.0.CO;2-K