Description:
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| 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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,X,del(X)(pter>q26:)
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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 Chromosomal Analysis |
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| GENE MAPPING & DOSAGE STUDIES - X CHROMOSOME |
Patterson et al (Genomics 1:297,1987) reported 2 copies for probe F9 (Xq26-Xq27.1) and 2 copies for probe pMCF.8 (Xq26-Xq27.1). One copy of each of the following probes was observed: cX33.2 (Xq27.1), cX55.7 (Xq 27.1), 4D-8 (Xq27.1), DX13 (Xq28), MN12 (Xq28), St14 (Xq28), F8 (Xq28) G6PD (Xq28), 767 (Xq28), and hs7 (Xq28). |
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| Cytogenetics |
Chromosome X: DELETION Aneuploid Segment (-)Xq26>Xqter |
| Remarks |
Clinically normal; normal female external genitalia, normal secondary sexual characteristics, and regular menses; del (X) is the inactive X in 100% of lymphocytes with BrdU |
| Tan VJ, Liu T, Arifin Z, Pak B, Tan ASC, Wong S, Khor CC, Yang H, Lee CG, Huang Z, Choolani MA, Chong SS, Third-Generation Single-Molecule Sequencing for Preimplantation Genetic Testing of Aneuploidy and Segmental Imbalances Clinical chemistry: 2022 |
| PubMed ID: 37477572 |
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| 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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| Patterson M, Schwartz C, Bell M, Sauer S, Hofker M, Trask B, van den Engh G, Davies KE, Physical mapping studies on the human X chromosome in the region Xq27- Xqter. Genomics1:297-306 1987 |
| PubMed ID: 3482420 |
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| Trunca C, Therman E, Rosenwaks Z, The phenotypic effects of small, distal Xq deletions. Hum Genet68:87-9 1984 |
| PubMed ID: 6500561 |
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