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Pitt-Rogers-Dank syndrome: The result of a 4p microdeletion

✍ Scribed by Clemens, Michele; Martsolf, John T.; Rogers, John G.; Mowery-Rushton, Patricia; Surti, Urvashi; McPherson, Elizabeth

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
478 KB
Volume
66
Category
Article
ISSN
0148-7299

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✦ Synopsis

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. 119841. 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.

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## Abstract ## BACKGROUND Wolf‐Hirschhorn syndrome (WHS) is a well‐known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion