Description:
KALLMANN SYN; HYPOGONADOTROPIC HYPOGONADISM, ANOSMIA- 147950, 244200, 308700
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
DGAP
dbGaP |
| Class |
Disorders of Steroid Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Other
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Ethnicity
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AMERICAN INDIAN/FRENCH
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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,XY,t(7;12)(7pter>7q22::12q24.1> 12qter;12pter>12q24.1::7q22>7qter),inv(9)(pter>p11::q13>p11::q13>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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| 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 12: TRANSLOCATION Breakpoint 12q24 t(7;12)12q24 |
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Chromosome 12: TRANSLOCATION Breakpoint 12q24.1 |
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Chromosome 7: TRANSLOCATION Breakpoint 7q22 |
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Chromosome 7: TRANSLOCATION Breakpoint 7q22 t(7;12)7q22 |
| Remarks |
Chippewa/French; delayed sexual development; low 17-ketosteroids & gonadotropin levels; delayed mental development; hypogonadotropic hypogonadism; deficiency of olfaction; skeletal anomalies; 46,XY, t(7;12)(q22;q24.1),inv(9); balanced |
| Stamou M, Ng SY, Brand H, Wang H, Plummer L, Best L, Havlicek S, Hibberd M, Khor CC, Gusella J, Balasubramanian R, Talkowski M, Stanton LW, Crowley WF, A balanced translocation in Kallmann Syndrome implicates a long noncoding RNA, RMST, as a GnRH neuronal regulator The Journal of clinical endocrinology and metabolism: 2019 |
| PubMed ID: 31628846 |
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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC, Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project American journal of human genetics82:712-22 2007 |
| PubMed ID: 18319076 |
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| Best LG, Wasdahl WA, Larson LM, Sturlaugson J, Chromosome abnormality in Kallmann syndrome American journal of medical genetics35:306-9 1990 |
| PubMed ID: 2309777 |
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