Description:
18Q- SYNDROME
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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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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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 |
| |
| Remarks |
Line JL404; 18q- Syndrome; decreased growth; midface hypoplasia; increased whorls on fingers; hypotonia present for only a few months after birth; developmental delay; parental line of hybrid GM16458. |
| Zhang S, Zhao D, Zhang J, Mao Y, Kong L, Zhang Y, Liang B, Sun X, Xu C, BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers BMC medical genomics12:52 2018 |
| PubMed ID: 30885195 |
| |
| 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 |
| |
| Strathdee G, Sutherland R, Jonsson JJ, Sataloff R, Kohonen-Corish M, Grady D, Overhauser J, Molecular characterization of patients with 18q23 deletions. Am J Hum Genet60(4):860-8 1997 |
| PubMed ID: 9106532 |
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| Kohonen-Corish M, Strathdee G, Overhauser J, McDonald T, Jammu V, A new deletion of 18q23 with few typical features of the 18q- syndrome. J Med Genet33(3):240-3 1996 |
| PubMed ID: 8728701 |
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