GM22926
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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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,XX,del(1)(p36.3).ish del(1)(p36.33)(CEB108/T7-,SKI-,D1S3739+).arr[hg19] 1p36.33p36.23(707086-9052154)x1
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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: DELETION Aneuploid Segment (-)ish del(1)(:p36.33->qter) |
| 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 |
9.0 |
| Dysmorphic Features |
| Large anterior fontanelle |
Yes |
| Microcephaly |
Yes |
| Brachycephaly |
No |
| Low hairline |
Yes |
| Small ears |
Yes |
| Low-set ears |
Yes |
| Ear asymmetry |
Yes |
| Thickened ear helices |
No |
| Synophrys |
No |
| Deep-set eyes |
Yes |
| Hypertelorism |
No |
| Small palpebral fissures |
Unknown |
| Upslanting palpebral fissures |
No |
| Downslanting palepebral fissures |
No |
| Midface hypoplasia |
Yes |
| Flat nasal bridge |
Yes |
| Pointed chin |
No |
| Clinodactyly |
No |
| Neurological |
| Mental retardation |
Not Applicable |
| Developmental delay |
Yes |
| Speech delay |
Not Applicable |
| Seizures |
No |
| Epileptic encephalopathy |
Unknown |
| Hypotonia |
Yes |
| Feeding difficulties |
Yes |
| Oropharyngeal dysphasia |
Yes |
| Self-abusive behavior |
Unknown |
| 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 |
Unknown |
| Conductive hearing loss |
Unknown |
| Sensorineural hearing loss |
Unknown |
| Gastrointestinal |
| Constipation |
Yes |
| Reflux |
Yes |
| Ulcer |
No |
| Hiatal hernia |
No |
| Discomfort |
Unknown |
| Endocrine |
| Thryroid function studies |
No |
| Pubertal changes |
Not Applicable |
| MRI Abnormalities |
| Polymicrogyria |
No |
| Leukoencephalopathy |
Yes |
| Generalized atrophy |
Yes |
| Prominent ventricles |
No |
| Remarks |
Clinically affected; large anterior fontanelle at birth; microcephaly; low hairline; small, low-set ears; right ear dysplastic; deep-set eyes; midface hypoplasia; flat nasal bridge; sacral crease; prominent clitoris; developmental delay; hypotonia; feeding difficulties; oropharyngeal dysphasia; patent ductus arteriosus; ventricular septal defect (VSD); atrial septal defect (ASD); constipation; gastrointestinal reflux; leukoencephalopathy; generalized atrophy; small corpus callosum; abnormal cerebellem; 8.6 MB deletion of chromosome 1p36 (54O7-185B14, de novo, apparently simple terminal truncation). |
| 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 |
| View |
FISH Texas Red detects SKI, FITC detects CEB108/T7,D1S3739, DAPI counterstain |
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karyotype Texas Red detects SKI, FITC detects CEB108/T7,D1S3739, 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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