Description:
18Q- SYNDROME
CHROMOSOME DELETION
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
45,X,der(18)(Ypter>Yp11::18q21.31>18pter).ish der(18)(SRY+)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Line JL360; 18q- Syndrome; donor subject [patient 1 in Mahr et al. (Am. J. Med. Genet. 67: 172-178, 1996) and case 5 in Strathdee et al. (Am. J. Med. Genet. 59: 476-483, 1995)] exhibited decreased growth, decreased head circumference, midfacial hypoplasia, slanting palpebral fissures, flat phlitrum, cryptorchidism, hypotonia, strabismus, developmental delay, and retardation [full scale intelligence quotient (FSIQ) = 65]; Vineland Adaptive Behavior Scale was 54; brain MRI was normal; speech delay; peculiar attachment to inanimate object. Parental line of hybrid GM16454. |
| 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 |
|
|