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,XY,del(18)(pter>q22.3:).ish del(18)(D18S1390-)
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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 JL314; 18q- Syndrome; donor subject [patient 22 in Mahr et al. (Am. J. Med. Genet. 67: 172-178, 1996) and case 25 in Strathdee et al. (Am. J. Med. Genet. 59: 476-483, 1995)] exhibited midfacial hypoplasia, malformed ears, flat phlitrum, hypotonia, nystagmus, and developmental delay [full scale intelligence quotient (FSIQ) = 52]; Vineland Adaptive Behavior Scale was 58; brain MRI was normal. Parental line of hybrid GM16450. |
| 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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