GM22992
LCL from B-Lymphocyte
Description:
CHROMOSOME 1P36 DELETION SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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LCL from B-Lymphocyte
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Country of Origin
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USA
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
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46,XX,der(1)t(1;19)(p36.33;q13.3).arr 1p36.33(554635-1226302)x1,1p36.33p36.32(1226992-2343537)x4,1p36.32(3225900-4759168)x3,19q13.41q13.43(58740242-63789654)x3
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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 LINE assay |
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| Cytogenetics |
Chromosome 1: DERIVATIVE CHROMOSOME Aneuploid Segment (+).ish der(1)t(1;19)(p36.33;q13.3) |
| Demographic Data |
| Relation to Proband |
proband |
| Sex |
Female |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: 1p36 Deletion Syndrome |
| (Baseline) |
| Inheritance |
| De novo |
Unknown |
| If no, give parental origin |
Unknown |
| Rearrangement |
Terminal |
| Deletion Size in Mb |
2.5 |
| Dysmorphic Features |
| Large anterior fontanelle |
No |
| Microcephaly |
Yes |
| Brachycephaly |
No |
| Low hairline |
Yes |
| Small ears |
No |
| Low-set ears |
Yes |
| Ear asymmetry |
No |
| Thickened ear helices |
No |
| Synophrys |
No |
| Deep-set eyes |
No |
| Hypertelorism |
No |
| Small palpebral fissures |
No |
| Upslanting palpebral fissures |
No |
| Downslanting palepebral fissures |
No |
| Midface hypoplasia |
Yes |
| Flat nasal bridge |
No |
| Pointed chin |
No |
| Clinodactyly |
Yes |
| Neurological |
| Mental retardation |
Unknown |
| Developmental delay |
Yes |
| Speech delay |
Yes |
| Seizures |
No |
| Epileptic encephalopathy |
Unknown |
| Hypotonia |
No |
| Feeding difficulties |
No |
| Oropharyngeal dysphasia |
No |
| Self-abusive behavior |
No |
| Cardiovascular |
| Cardiomyopathy |
No |
| Structural congenital heart defects |
Yes |
| Patent foramen ovale |
No |
| Patent ductus arteriosus |
Yes |
| Ventricular septal defects |
Yes |
| Atrial septal defect |
Yes |
| Ebstein anomaly |
No |
| Bicommisural aortic valve |
No |
| Ophthalmologic and Audiologic |
| Hypermetropia (farsightedness) |
No |
| Myopia |
No |
| Strabismus |
No |
| Visual inattentiveness |
No |
| Hearing problems |
No |
| Conductive hearing loss |
No |
| Sensorineural hearing loss |
No |
| Gastrointestinal |
| Constipation |
No |
| Reflux |
No |
| Ulcer |
No |
| Hiatal hernia |
No |
| Discomfort |
No |
| Endocrine |
| Thryroid function studies |
No |
| Pubertal changes |
No |
| MRI Abnormalities |
| Polymicrogyria |
Unknown |
| Leukoencephalopathy |
Unknown |
| Generalized atrophy |
Unknown |
| Prominent ventricles |
Unknown |
| Remarks |
Clinically affected; hypotonia at birth; low-set ears; upturned nose; mild hypertelorism; craniosynostosis; sagittal and partial coronal synostosis; microcephaly; mild dilation of lateral ventricles; bilateral ptosis; intermittent exotropia; hypermetropia; structural congenital heart defects (ASD/PDA); anterior placement of anus; sacral dimple with tethered cord; 13 pairs of ribs; swallowing dyfunction; severe global developmental delay; initial microarray analysis revealed a 1 Mb temrinal deletion, following by an ~2.8 Mb triplication and a more proximal duplication spanning ~400 kb; subject 71 in publication by Gajecka, et al. (PMID: 15483646). |
| 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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| 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 |
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| 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 |
| View |
FISH Spectrum Green detects 129F16/SP6, Dapi counterstain |
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FISH Texas Red detects SKI,FITC detects D1S3739,DAPI counterstain |
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FISH FITC detects CEB108/T7,Spectrum Orange detects D19S238E,Dapi counterstain |
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karyotype FITC detects CEB108/T7,Spectrum Orange detects D19S238E,Dapi counterstain |
| Split Ratio |
1:3 |
| 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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