GM22996
LCL from B-Lymphocyte
Description:
CHROMOSOME 1P36 DELETION SYNDROME
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Country of Origin
|
USA
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
ISCN
|
46,XY,der(1)t(Y;1)(q11.23;p36.33).ish der(1)t(Y;1)(SRY+,DYZ1+;SKI-,DYZ1+).arr[hg19]1p36.33(721289-3499067)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Cytogenetics |
Chromosome 1: DERIVATIVE CHROMOSOME Aneuploid Segment (+).ish der(1)(Yqter->Yq11.23::1p36.33->1qter) |
Demographic Data |
Relation to Proband |
proband |
Sex |
Male |
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 |
3.0-3.5 |
Dysmorphic Features |
Large anterior fontanelle |
Unknown |
Microcephaly |
Unknown |
Brachycephaly |
Unknown |
Low hairline |
Unknown |
Small ears |
Unknown |
Low-set ears |
Unknown |
Ear asymmetry |
Unknown |
Thickened ear helices |
Unknown |
Synophrys |
Unknown |
Deep-set eyes |
Unknown |
Hypertelorism |
Unknown |
Small palpebral fissures |
Unknown |
Upslanting palpebral fissures |
Unknown |
Downslanting palepebral fissures |
Unknown |
Midface hypoplasia |
Unknown |
Flat nasal bridge |
Unknown |
Pointed chin |
Unknown |
Clinodactyly |
Unknown |
Neurological |
Mental retardation |
Unknown |
Developmental delay |
Unknown |
Speech delay |
Unknown |
Seizures |
Unknown |
Epileptic encephalopathy |
Unknown |
Hypotonia |
Unknown |
Feeding difficulties |
Unknown |
Oropharyngeal dysphasia |
Unknown |
Self-abusive behavior |
Unknown |
Cardiovascular |
Cardiomyopathy |
Unknown |
Structural congenital heart defects |
Unknown |
Patent foramen ovale |
Unknown |
Patent ductus arteriosus |
Unknown |
Ventricular septal defects |
Unknown |
Atrial septal defect |
Unknown |
Ebstein anomaly |
Unknown |
Bicommisural aortic valve |
Unknown |
Ophthalmologic and Audiologic |
Hypermetropia (farsightedness) |
Unknown |
Myopia |
Unknown |
Strabismus |
Unknown |
Visual inattentiveness |
Unknown |
Hearing problems |
Unknown |
Conductive hearing loss |
Unknown |
Sensorineural hearing loss |
Unknown |
Gastrointestinal |
Constipation |
Unknown |
Reflux |
Unknown |
Ulcer |
Unknown |
Hiatal hernia |
Unknown |
Discomfort |
Unknown |
Endocrine |
Thryroid function studies |
Unknown |
Pubertal changes |
Unknown |
MRI Abnormalities |
Polymicrogyria |
Unknown |
Leukoencephalopathy |
Unknown |
Generalized atrophy |
Unknown |
Prominent ventricles |
Unknown |
Remarks |
3.0-3.5 Mb deletion of chromosome 1p36 (de novo, derivative + Yq); father is GM22993; mother is GM22994. |
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 D1S3739,DAPI counterstain |
|
FISH FITC detects CEB108/T7,DAPI counterstain |
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FISH Spectrum Orange detects XqYq(GBZ43206),DAPI counterstain |
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FISH Spectrum Orange detects Yp11.3,Spectrum Green detects Xp11.1-q11.1,DAPI counterstain |
|
FISH Spectrum Orange detects DYZ3, DAPI counterstain |
|
karyotype Spectrum Orange detects DYZ3, DAPI counterstain |
Split Ratio |
1:4 |
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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