Journal article
Linkage localization of Börjeson-Forssman-Lehmann syndrome
American journal of medical genetics, Vol.34(4), pp.470-474
12/1989
DOI: 10.1002/ajmg.1320340403
PMID: 2624254
Abstract
Börjeson-Forssman-Lehmann syndrome (BFLS) is a form of X-linked mental retardation (XLMR) with characteristic minor physical anomalies. It has no biochemical or cytogenetic markers. Heterozygous females may be entirely normal or may have mild-to-moderate manifestations. We studied 41 individuals from one family with BFLS for linkage on the X chromosome. The highest lod scores were 2.32 with DXS10 and 2.24 with DXS51, both at a θ = 0.0. A single recombinant was found between HPRT and BFLS. These results suggest that the BFLS locus is on the distal portion of Xq. Previously reported linkage studies in families with XLMR have not shown linkage with DXS10. This study suggests that one of the several X chromosome loci whose dysfunction is associated with mental retardation is located on distal Xq.
Details
- Title: Subtitle
- Linkage localization of Börjeson-Forssman-Lehmann syndrome
- Creators
- Katherine D MathewsHolly H ArdingerDarryl Y NishimuraKenneth H BuetowJeffrey C MurrayJames A Bartley
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics, Vol.34(4), pp.470-474
- DOI
- 10.1002/ajmg.1320340403
- PMID
- 2624254
- NLM abbreviation
- Am J Med Genet
- ISSN
- 0148-7299
- eISSN
- 1096-8628
- Publisher
- Wiley; New York
- Number of pages
- 5
- Language
- English
- Date published
- 12/1989
- Academic Unit
- Neurology; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Pediatric Dentistry; Craniofacial Anomalies Research Center; Neurology (Pediatrics); Dental Research; Ophthalmology and Visual Sciences
- Record Identifier
- 9984020789402771
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