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Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families.
Am J Med Genet. 1994 May 01; 50(4):388-90.AJ

Abstract

Linkage analysis was performed in 2 previously described European families segregating for the Simpson-Golabi-Behmel (SGB) syndrome. In both kindreds close linkage without recombination (zmax = 4.45 at theta = 0.00) was observed between the disease locus and the HPRT locus mapped in Xq26. These data are very similar to those (zmax = 7.5 at theta = 0.00) reported recently by others after studying a large Dutch-Canadian kindred with SGB syndrome. Compiled lod scores from the 3 families reach their maximum of 11.95 at recombination fraction of 0.00 with one lod unit support interval of 0.00-0.04.

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Authors+Show Affiliations

Orth U
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
Gurrieri F
No affiliation info available
Behmel A
No affiliation info available
Genuardi M
No affiliation info available
Cremer M
No affiliation info available
Gal A
No affiliation info available
Neri G
No affiliation info available

MeSH

Abnormalities, MultipleChromosome MappingFemaleGenetic LinkageGigantismHumansHypoxanthine PhosphoribosyltransferaseLod ScoreMaleObesitySex Chromosome AberrationsSyndromeX Chromosome

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8209924

Citation

Orth, U, et al. "Gene for Simpson-Golabi-Behmel Syndrome Is Linked to HPRT in Xq26 in Two European Families." American Journal of Medical Genetics, vol. 50, no. 4, 1994, pp. 388-90.
Orth U, Gurrieri F, Behmel A, et al. Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families. Am J Med Genet. 1994;50(4):388-90.
Orth, U., Gurrieri, F., Behmel, A., Genuardi, M., Cremer, M., Gal, A., & Neri, G. (1994). Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families. American Journal of Medical Genetics, 50(4), 388-90.
Orth U, et al. Gene for Simpson-Golabi-Behmel Syndrome Is Linked to HPRT in Xq26 in Two European Families. Am J Med Genet. 1994 May 1;50(4):388-90. PubMed PMID: 8209924.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families. AU - Orth,U, AU - Gurrieri,F, AU - Behmel,A, AU - Genuardi,M, AU - Cremer,M, AU - Gal,A, AU - Neri,G, PY - 1994/5/1/pubmed PY - 1994/5/1/medline PY - 1994/5/1/entrez SP - 388 EP - 90 JF - American journal of medical genetics JO - Am J Med Genet VL - 50 IS - 4 N2 - Linkage analysis was performed in 2 previously described European families segregating for the Simpson-Golabi-Behmel (SGB) syndrome. In both kindreds close linkage without recombination (zmax = 4.45 at theta = 0.00) was observed between the disease locus and the HPRT locus mapped in Xq26. These data are very similar to those (zmax = 7.5 at theta = 0.00) reported recently by others after studying a large Dutch-Canadian kindred with SGB syndrome. Compiled lod scores from the 3 families reach their maximum of 11.95 at recombination fraction of 0.00 with one lod unit support interval of 0.00-0.04. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8209924/Gene_for_Simpson_Golabi_Behmel_syndrome_is_linked_to_HPRT_in_Xq26_in_two_European_families_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=50&issue=4&spage=388 DB - PRIME DP - Unbound Medicine ER -