title: Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.
abstract: Cri du chat syndrome (CdCS) and primary ciliary dyskinesia (PCD) are rare diseases that present with frequent respiratory symptoms. PCD can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion attributable to CdCS on the opposite chromosome. Chronic oto-sino-pulmonary symptoms or organ laterality defects in CdCS should prompt an evaluation for PCD.
authors: Montreal Children's Hospital, McGill University, Quebec, Canada; Department of Pediatrics, University of North Carolina, Chapel Hill, NC.
authors: Adam J
authors: AJ
authors: Shapiro
authors: Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC.
authors: Karen E
authors: KE
authors: Weck
authors: Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC.
authors: Kay C
authors: KC
authors: Chao
authors: Seattle Children's Hospital and Department of Pediatrics, University of Washington School of Medicine, Seattle, WA.
authors: Margaret
authors: M
authors: Rosenfeld
authors: MRC-Holland, Amsterdam, The Netherlands.
authors: Anders O H
authors: AO
authors: Nygren
authors: Department of Medicine, University of North Carolina, Chapel Hill, NC.
authors: Michael R
authors: MR
authors: Knowles
authors: Department of Pediatrics, University of North Carolina, Chapel Hill, NC.
authors: Margaret W
authors: MW
authors: Leigh
authors: Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC.
authors: Maimoona A
authors: MA
authors: Zariwala
mesh_terms: D056444:Axonemal Dyneins / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003062:Codon; D003410:Cri-du-Chat Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics*; D005260:Female; D057898:Hemizygote; D006801:Humans; D007619:Kartagener Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics*; D008297:Male; D009154:Mutation; D010641:Phenotype; D011859:Radiography; D012120:Respiration Disorders / Q000000981:diagnostic imaging / Q000235:genetics
chemical_list: D003062:Codon; D056444:Axonemal Dyneins; C497507:DNAH5 protein, human