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Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.
Am J Med Genet. 1992 Apr 15-May 1; 43(1-2):428-35.AJ

Abstract

We report 6 affected males in a 5-generation family with x-linked Simpson-Golabi-Behmel (SGB) syndrome. All had pre- and postnatal overgrowth with 2 adult males attaining heights over 195 cm. Other features included "coarse" face with hypertelorism, broad nasal root, cleft palate, full lips with a midline groove of the lower lip, grooved tongue with tongue tie, prominent mandible, congenital heart defects, arrhythmias, supernumerary nipples, splenomegaly, large dysplastic kidneys, cryptorchidism, hypospadias, skeletal abnormalities and postaxial hexadactyly. All affected individuals were of normal intelligence. One boy died at age 19 months of a neuroblastoma. The putative origin of the gene in this family was the maternal great grandmother of the propositus. Eight carrier females, who showed varying manifestations of the gene, have been identified. Anthropometric analysis has identified preliminary characteristic craniofacial dimensions in this syndrome. Molecular studies have shown a maximal lod score of 2.81 with no recombinants observed for the SGB-DXYS68 pairing, mapping the disorder to Xqcen-Xq21.3.

Authors+Show Affiliations

Hughes-Benzie RM
Division of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada.
Hunter AG
No affiliation info available
Allanson JE
No affiliation info available
Mackenzie AE
No affiliation info available

MeSH

AdolescentAdultChromosome MappingFacial BonesFemaleGenetic LinkageGigantismHeterozygoteHumansInfantKidneyMaleMiddle AgedNeuroblastomaPedigreeSkullSyndromeX Chromosome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1605222

Citation

Hughes-Benzie, R M., et al. "Simpson-Golabi-Behmel Syndrome Associated With Renal Dysplasia and Embryonal Tumor: Localization of the Gene to Xqcen-q21." American Journal of Medical Genetics, vol. 43, no. 1-2, 1992, pp. 428-35.
Hughes-Benzie RM, Hunter AG, Allanson JE, et al. Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21. Am J Med Genet. 1992;43(1-2):428-35.
Hughes-Benzie, R. M., Hunter, A. G., Allanson, J. E., & Mackenzie, A. E. (1992). Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21. American Journal of Medical Genetics, 43(1-2), 428-35.
Hughes-Benzie RM, et al. Simpson-Golabi-Behmel Syndrome Associated With Renal Dysplasia and Embryonal Tumor: Localization of the Gene to Xqcen-q21. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):428-35. PubMed PMID: 1605222.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21. AU - Hughes-Benzie,R M, AU - Hunter,A G, AU - Allanson,J E, AU - Mackenzie,A E, PY - 1992/4/1/pubmed PY - 1992/4/1/medline PY - 1992/4/1/entrez SP - 428 EP - 35 JF - American journal of medical genetics JO - Am J Med Genet VL - 43 IS - 1-2 N2 - We report 6 affected males in a 5-generation family with x-linked Simpson-Golabi-Behmel (SGB) syndrome. All had pre- and postnatal overgrowth with 2 adult males attaining heights over 195 cm. Other features included "coarse" face with hypertelorism, broad nasal root, cleft palate, full lips with a midline groove of the lower lip, grooved tongue with tongue tie, prominent mandible, congenital heart defects, arrhythmias, supernumerary nipples, splenomegaly, large dysplastic kidneys, cryptorchidism, hypospadias, skeletal abnormalities and postaxial hexadactyly. All affected individuals were of normal intelligence. One boy died at age 19 months of a neuroblastoma. The putative origin of the gene in this family was the maternal great grandmother of the propositus. Eight carrier females, who showed varying manifestations of the gene, have been identified. Anthropometric analysis has identified preliminary characteristic craniofacial dimensions in this syndrome. Molecular studies have shown a maximal lod score of 2.81 with no recombinants observed for the SGB-DXYS68 pairing, mapping the disorder to Xqcen-Xq21.3. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1605222/Simpson_Golabi_Behmel_syndrome_associated_with_renal_dysplasia_and_embryonal_tumor:_localization_of_the_gene_to_Xqcen_q21_ DB - PRIME DP - Unbound Medicine ER -