GM22979
LCL from B-Lymphocyte
Description:
CHROMOSOME 1P36 DELETION SYNDROME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
ISCN
|
46,XX,dup(1)(pter->p36.3::p36.3->qter)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Cytogenetics |
Chromosome 1: DUPLICATION Aneuploid Segment (+)ish dup(1)(pter->p36.33::p36.33->qter) |
Remarks |
Bitemporal narrowing; sloping forehead; metopic synostosis; microcephaly; blepharophimosis; mild 2-3 toe syndactyly; atrial septal defect (ASD); rectal stenosis; developmental delay-height, weight and head circumference all below 3rd percentile at 32 months; rolled over at 6 months, sat unassisted at 12-13 months, pulled to a stand at 24-26 months and began cruising at 32 months, able to scribble and say a few words at 32 months; subject has a complex rearrangement involving deletion, duplication and triplication of the 1p36 region-Array CGH revealed copy number gains indicative of a ~1.25 Mb terminal triplication followed by an ~4Mb duplication,FISH revealed that RP5-857K21 (the most distal clone on the 1.36 contig) was deleted-parental analysis revealed that this deletion is de novo and not a polymorphic variant, parental chromosomes were normal. |
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 |
|
Gajecka M, Mackay KL, Shaffer LG, Monosomy 1p36 deletion syndrome American journal of medical genetics Part C, Seminars in medical genetics145C:346-56 2007 |
PubMed ID: 17918734 |
|
Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, Shaw CA, Kashork CD, Heilstedt HA, Ansel DA, Theisen A, Rice R, Rice DP, Shaffer LG, Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure European journal of human genetics : EJHG13:139-49 2004 |
PubMed ID: 15483646 |
Split Ratio |
1:5 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
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