Description:
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,X,t(X;1)(Xpter>Xq26::1q21>1qter; 1pter>1q21::Xq26>Xqter),inv(7)(pter> q11.2::q22>qter)
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 1: TRANSLOCATION Breakpoint 1q21 t(X;1)1q21 |
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Chromosome 7: INVERSION Breakpoint 7q11 inv(7)7q11 |
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Chromosome 7: INVERSION Breakpoint 7q22 inv(7)7q22 |
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Chromosome X: TRANSLOCATION Breakpoint Xq26 t(X;1)Xq26 |
| Remarks |
De novo 46,X,t(X;1)(Xpter>Xq26::1q21> 1qter;1pter>1q21::Xq26>Xqter),inv(7) (pter>q11.2::q22>qter); norm X is late replicating; elevated birth weight and length; diaphragmatic hernia |
| Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999 |
| PubMed ID: 10377420 |
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| Veugelers M, Vermeesch J, Watanabe K, Yamaguchi Y, Marynen P, David G, GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. Genomics53:1-11 1998 |
| PubMed ID: 9787072 |
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| Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D, Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome [see comments] Nat Genet12:241-7 1996 |
| PubMed ID: 8589713 |
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| Punnett HH, Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation [letter] Am J Med Genet50:391-3 1994 |
| PubMed ID: 8209925 |
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| Berchtold MW, Koller M, Egli R, Rhyner JA, Hameister H, Strehler EE, Localization of the intronless gene coding for calmodulin-like protein CLP to human chromosome 10p13-ter. Hum Genet90:496-500 1993 |
| PubMed ID: 8428750 |
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| Johnson B, Brooks BA, Heinzmann C, Diep A, Mohandas T, Sparkes RS, Reyes H, Hoffman E, Lange E, Gatti RA, et al, The Ah receptor nuclear translocator gene (ARNT) is located on q21 of human chromosome 1 and on mouse chromosome 3 near Cf-3. Genomics17:592-8 1993 |
| PubMed ID: 8244375 |
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| Mardon HJ, Grant RP, Grant KE, Harris H, Fibronectin splice variants are differentially incorporated into the extracellular matrix of tumorigenic and non-tumorigenic hybrids between normal fibroblasts and sarcoma cells. J Cell Sci104 ( Pt 3):783-92 1993 |
| PubMed ID: 8314873 |
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| Superti-Furga A, Rocchi M, Schafer BW, Gitzelmann R, Complementary DNA sequence and chromosomal mapping of a human proteoglycan-binding cell-adhesion protein (dermatopontin). Genomics17:463-7 1993 |
| PubMed ID: 8104875 |
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| Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S, et al, Deficient expression of a B cell cytoplasmic tyrosine kinase in human X- linked agammaglobulinemia. Cell72:279-90 1993 |
| PubMed ID: 8425221 |
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| Lebo RV, Chance PF, Dyck PJ, Redila-Flores MT, Lynch ED, Golbus MS, Bird TD, King MC, Anderson LA, Hall J, et al, Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region [published erratum appears in Hum Genet 1993 Apr;91(3):301] Hum Genet88:1-12 1991 |
| PubMed ID: 1683643 |
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| Grundy HO, Peltz G, Moore KW, Golbus MS, Jackson LG, Lebo RV, The polymorphic Fc gamma receptor II gene maps to human chromosome 1q. Immunogenetics29:331-9 1989 |
| PubMed ID: 2565886 |
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| Noguchi T, Mattei MG, Oberle I, Planche J, Imbert J, Pelassy C, Birg F, Birnbaum D, Localization of the mcf.2 transforming sequence to the X chromosome. EMBO J6:1301-7 1987 |
| PubMed ID: 3038515 |
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| Oberle I, Camerino G, Wrogemann K, Arveiler B, Hanauer A, Raimondi E, Mandel JL, Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27. Hum Genet77:60-5 1987 |
| PubMed ID: 3502701 |
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| Huerre-Jeanpierre C, Mattei MG, Weil D, Grzeschik KH, Chu ML, Sangiorgi FO, Sobel ME, Ramirez F, Junien C, Further evidence for the dispersion of the human fibrillar collagen genes. Am J Hum Genet38:26-37 1986 |
| PubMed ID: 3004202 |
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| Lebo RV, Anderson LA, Lau YF, Flandermeyer R, Kan YW, Flow-sorting analysis of normal and abnormal human genomes. Cold Spring Harb Symp Quant Biol51 Pt 1:169-76 1986 |
| PubMed ID: 3472713 |
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| Oberle I, Camerino G, Kloepfer C, Moisan JP, Grzeschik KH, Hellkuhl B, Hors-Cayla MC, Van Cong N, Weil D, Mandel JL, Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet72:43-9 1986 |
| PubMed ID: 3002952 |
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| Murphy PD, Ruddle FH, Isolation and regional mapping of random X sequences from distal human X chromosome. Somat Cell Mol Genet11:433-44 1985 |
| PubMed ID: 2994237 |
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| Oberle I, Drayna D, Camerino G, White R, Mandel JL, The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci U S A82:2824-8 1985 |
| PubMed ID: 2986139 |
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| Camerino G, Grzeschik KH, Jaye M, De La Salle H, Tolstoshev P, Lecocq JP, Heilig R, Mandel JL, Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A81:498-502 1984 |
| PubMed ID: 6320191 |
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| Yen PH, Marsh B, Mohandas TK, Shapiro LJ, Isolation of genomic clones homologous to transcribed sequences from human X chromosome. Somat Cell Mol Genet10:561-71 1984 |
| PubMed ID: 6594767 |
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| Lin MS, Oizumi J, Ng WG, Alfi OS, Donnell GN, Regional mapping of the gene for human UDPGal 4-epimerase on chromosome 1 in mouse-human hybrids. Cytogenet Cell Genet24:217-23 1979 |
| PubMed ID: 509992 |
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| Punnett HH, Kistermacher ML, Greene AE, Coriell LL, An (X;1) translocation, balanced, 46 chromosomes. Repository identification no. GM-97. Cytogenet Cell Genet13:406-7 1974 |
| PubMed ID: 4139001 |
| Passage Frozen |
9 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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