Description:
18Q- SYNDROME
MARKER CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities dbGaP |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
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
|
Sample Source
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DNA from LCL
|
Relation to Proband
|
proband
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Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY,add(18)(pter>q22.1::?).ish add(18)(VIJ2 2050-)
|
Species
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Homo sapiens
|
Common Name
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Human
|
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 JL288; mild 18q- Syndrome; donor subject [patient 27 in Mahr et al. (Am. J. Med. Genet. 67: 172-178, 1996) and case 18 in Strathdee et al. (Am. J. Med. Genet. 59: 476-483, 1995)] exhibited decreased growth, midfacial hypoplasia, slanting palpebral fissures, downturned mouth, increased whorls on fingers, seizures, developmental delay, and retardation [full scale intelligence quotient (FSIQ) = 57]; Vineland Adaptive Behavior Scale was 39; brain MRI was abnormal. |
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 |
|
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 |
|
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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