title: Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome.
abstract: We present a patient with features suggestive of Seckel syndrome who was found to be mosaic for ring 4 chromosome. Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe retardation, usually thought to be inherited as an autosomal recessive condition. In addition, our patient had oligomeganephronia, a rare and usually sporadic renal malformation, previously reported in two other patients with abnormalities of chromosome 4. Besides pointing out the overlap between the Seckel phenotype and Wolf-Hirschhorn syndrome, our patient illustrates the need to consider cytogenetic studies in patients with the Seckel phenotype, so that accurate diagnoses can be given to families. Also, the case suggests that there may be a locus for oligomeganephronia distal to the Wolf-Hirschhorn critical region on 4p.
authors.affiliation: Division of Medical Genetics, Jefferson Medical College, Philadelphia, Pennsylvania, USA.
authors.forename: C E
authors.initials: CE
authors.lastname: Anderson
authors.forename: R
authors.initials: R
authors.lastname: Wallerstein
authors.forename: S T
authors.initials: ST
authors.lastname: Zamerowski
authors.forename: C
authors.initials: C
authors.lastname: Witzleben
authors.forename: J R
authors.initials: JR
authors.lastname: Hoyer
authors.forename: L
authors.initials: L
authors.lastname: Gibas
authors.forename: L G
authors.initials: LG
authors.lastname: Jackson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002894:Chromosomes, Human, Pair 4; D003394:Craniofacial Dysostosis / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D011296:Prenatal Diagnosis; D012303:Ring Chromosomes; D013577:Syndrome