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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ISCN
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46,XX,del(18)(q22).ish del(18)(q22)(VIJ2yRM2050-).arr 15q13.3(30245952-30353791)x1,18q22.2q23(64922369-76116029)x1
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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 |
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| Cytogenetics |
Chromosome 18: DELETION Aneuploid Segment (-)18q22>18qter |
| Remarks |
Line JL181; mild 18q- syndrome [patient 14 in Mahr et al Am J Med Genet 67:172-178, 1996 and case 23 in Strathdee et al Am J Med Genet 59:476-483, 1995]; midface hypoplasia; flat nasal bridge; tapered fingers; abnormal toes; hypotonia; hearing loss; no behavioral problems; parental line of hybrid GM14562 |
| 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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| Mahr RN, Moberg PJ, Overhauser J, Strathdee G, Kamholz J, Loevner LA, Campbell H, Zackai EH, Reber ME, Mozley DP, Brown L, Turetsky BI, Shapiro RM, Neuropsychiatry of 18q- syndrome. Am J Med Genet67(2):172-8 1996 |
| PubMed ID: 8723044 |
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| Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J, Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet59(4):476-83 1995 |
| PubMed ID: 8585568 |
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| Kline AD, White ME, Wapner R, Rojas K, Biesecker LG, Kamholz J, Zackai EH, Muenke M, Scott CI Jr, Overhauser J, Molecular analysis of the 18q- syndrome--and correlation with phenotype. Am J Hum Genet52(5):895-906 1993 |
| PubMed ID: 8488839 |
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