2.50
Hdl Handle:
http://hdl.handle.net/10541/97283
Title:
Unilateral renal aplasia in X-linked Kallmann's syndrome.
Authors:
Kirk, J M; Grant, D B; Besser, G M; Shalet, Stephen M; Quinton, R; Smith, C S; White, M; Edwards, O; Bouloux, P M
Abstract:
Unilateral renal agenesis is an uncommon association with Kallmann's syndrome (KS) (hypogonadotrophic hypogonadism and olfactory defect). We have investigated affected individuals from six pedigrees: five with X-linked KS, and one with X-linked KS and X-linked ichthyosis (XLI). Seventeen affected individuals have had renal imaging performed, and six scans demonstrated only one kidney. In addition, two pedigrees had males who died in the neonatal period with bilateral renal agenesis. Only two of the four affected individuals in the family with X-linked KS and X-linked ichthyosis (Pedigree 6) showed unilateral renal agenesis, despite all four patients demonstrating an interstitial deletion within the short arm of the X-chromosome. These data indicate that unilateral renal agenesis is much commoner than previously suspected in patients with X-linked Kallmann's syndrome, but that it may have incomplete penetrance within a family.
Affiliation:
Royal Free Hospital, London, U.K.
Citation:
Unilateral renal aplasia in X-linked Kallmann's syndrome. 1994, 46 (3):260-2 Clin. Genet.
Journal:
Clinical Genetics
Issue Date:
Sep-1994
URI:
http://hdl.handle.net/10541/97283
DOI:
10.1111/j.1399-0004.1994.tb04238.x
PubMed ID:
7820942
Type:
Article
Language:
en
ISSN:
0009-9163
Appears in Collections:
All Christie Publications

Full metadata record

DC FieldValue Language
dc.contributor.authorKirk, J Men
dc.contributor.authorGrant, D Ben
dc.contributor.authorBesser, G Men
dc.contributor.authorShalet, Stephen Men
dc.contributor.authorQuinton, Ren
dc.contributor.authorSmith, C Sen
dc.contributor.authorWhite, Men
dc.contributor.authorEdwards, Oen
dc.contributor.authorBouloux, P Men
dc.date.accessioned2010-04-23T10:58:33Z-
dc.date.available2010-04-23T10:58:33Z-
dc.date.issued1994-09-
dc.identifier.citationUnilateral renal aplasia in X-linked Kallmann's syndrome. 1994, 46 (3):260-2 Clin. Genet.en
dc.identifier.issn0009-9163-
dc.identifier.pmid7820942-
dc.identifier.doi10.1111/j.1399-0004.1994.tb04238.x-
dc.identifier.urihttp://hdl.handle.net/10541/97283-
dc.description.abstractUnilateral renal agenesis is an uncommon association with Kallmann's syndrome (KS) (hypogonadotrophic hypogonadism and olfactory defect). We have investigated affected individuals from six pedigrees: five with X-linked KS, and one with X-linked KS and X-linked ichthyosis (XLI). Seventeen affected individuals have had renal imaging performed, and six scans demonstrated only one kidney. In addition, two pedigrees had males who died in the neonatal period with bilateral renal agenesis. Only two of the four affected individuals in the family with X-linked KS and X-linked ichthyosis (Pedigree 6) showed unilateral renal agenesis, despite all four patients demonstrating an interstitial deletion within the short arm of the X-chromosome. These data indicate that unilateral renal agenesis is much commoner than previously suspected in patients with X-linked Kallmann's syndrome, but that it may have incomplete penetrance within a family.en
dc.language.isoenen
dc.subject.meshHumans-
dc.subject.meshKallmann Syndrome-
dc.subject.meshKidney-
dc.subject.meshLinkage (Genetics)-
dc.subject.meshMale-
dc.subject.meshPedigree-
dc.subject.meshX Chromosome-
dc.titleUnilateral renal aplasia in X-linked Kallmann's syndrome.en
dc.typeArticleen
dc.contributor.departmentRoyal Free Hospital, London, U.K.en
dc.identifier.journalClinical Geneticsen

Related articles on PubMed

All Items in Christie are protected by copyright, with all rights reserved, unless otherwise indicated.