Description:
TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 (LANGER-GIEDION SYNDROME; LGS)
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| 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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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,XX,del(8)(q23q24.1)[20]
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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, Lactate Dehydrogenase, and Malate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| Cytogenetics |
Chromosome 8: DELETION Aneuploid Segment (-)8q23>8q24 |
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Chromosome 8: DELETION Aneuploid Segment (-)8q23-8q24 |
| Remarks |
Facial asymmetry; multiple exostoses; sparse hair; speech problems; weight, height, and head circumference below the 3rd %ile; 46,XX,del(8)(pter>q23::q24.13>qter) |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
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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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| Hou J, Parrish J, Ludecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF, et al, A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). Genomics29:87-97 1995 |
| PubMed ID: 8530105 |
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| Parrish JE, Wagner MJ, Hecht JT, Scott CI Jr, Wells DE, Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome. Genomics11:54-61 1991 |
| PubMed ID: 1684953 |
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