Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion

American Journal of Medical Genetics
M ClemensE McPherson

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.

References

Jan 1, 1989·American Journal of Medical Genetics·J W Oorthuys, E M Bleeker-Wagemakers
Oct 1, 1984·American Journal of Medical Genetics·D B PittD M Danks
Jul 17, 1995·American Journal of Medical Genetics·L L EstabrooksA S Aylsworth
Feb 13, 1995·American Journal of Medical Genetics·L A Lizcano-GilJ Sánchez-Corona
Nov 1, 1993·American Journal of Medical Genetics·B DallapiccolaG Novelli

❮ Previous
Next ❯

Citations

May 23, 1998·Journal of Medical Genetics·M M Cohen, G Neri
Nov 24, 1999·Clinical Genetics·A M InnesA J Dawson
Mar 3, 1998·American Journal of Medical Genetics·T J WrightM R Altherr
Sep 5, 2002·American Journal of Medical Genetics·Hartmut EngelsHeiko Reutter
Dec 2, 1996·American Journal of Medical Genetics·M ZollinoG Neri
Oct 22, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Marcella ZollinoGiovanni Neri
Jun 11, 2005·American Journal of Medical Genetics. Part a·Laura RodríguezMaría Luisa Martínez-Frías
Jul 9, 2004·European Journal of Human Genetics : EJHG·Marcella ZollinoGiovanni Neri
Jul 28, 2011·European Journal of Human Genetics : EJHG·Peter HammondOliver Quarrell
Mar 7, 1998·American Journal of Medical Genetics·A Battaglia, J C Carey

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.