GM23005
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
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY,del(1)(p36.3).arr[hg19]1p36.33p36.23 (718650-9989192)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Cytogenetics |
Chromosome 1: DELETION Aneuploid Segment (-).ish del(1)(:p36.33->qter) |
Demographic Data |
Relation to Proband |
proband |
Sex |
Male |
|
Data Elements |
Clinical Element Type: 1p36 Deletion Syndrome |
(Baseline) |
Inheritance |
De novo |
Unknown |
If no, give parental origin |
Maternal |
Rearrangement |
Terminal |
Deletion Size in Mb |
10 |
Dysmorphic Features |
Large anterior fontanelle |
Yes |
Microcephaly |
No |
Brachycephaly |
Yes |
Low hairline |
Yes |
Small ears |
Yes |
Low-set ears |
Yes |
Ear asymmetry |
Yes |
Thickened ear helices |
Yes |
Synophrys |
No |
Deep-set eyes |
Yes |
Hypertelorism |
Yes |
Small palpebral fissures |
Unknown |
Upslanting palpebral fissures |
No |
Downslanting palepebral fissures |
Yes |
Midface hypoplasia |
Yes |
Flat nasal bridge |
Yes |
Pointed chin |
No |
Clinodactyly |
Yes |
Neurological |
Mental retardation |
Yes |
Developmental delay |
Yes |
Speech delay |
Yes |
Seizures |
Yes |
Epileptic encephalopathy |
Yes |
Hypotonia |
Yes |
Feeding difficulties |
Yes |
Oropharyngeal dysphasia |
Yes |
Self-abusive behavior |
No |
Cardiovascular |
Cardiomyopathy |
No |
Structural congenital heart defects |
Yes |
Patent foramen ovale |
No |
Patent ductus arteriosus |
Yes |
Ventricular septal defects |
No |
Atrial septal defect |
No |
Ebstein anomaly |
No |
Bicommisural aortic valve |
No |
Ophthalmologic and Audiologic |
Hypermetropia (farsightedness) |
Unknown |
Myopia |
Unknown |
Strabismus |
Yes |
Visual inattentiveness |
Yes |
Hearing problems |
No |
Conductive hearing loss |
No |
Sensorineural hearing loss |
No |
Gastrointestinal |
Constipation |
No |
Reflux |
Yes |
Ulcer |
No |
Hiatal hernia |
No |
Discomfort |
No |
Endocrine |
Thryroid function studies |
No |
Pubertal changes |
No |
MRI Abnormalities |
Polymicrogyria |
Yes |
Leukoencephalopathy |
Yes |
Generalized atrophy |
No |
Prominent ventricles |
Yes |
Remarks |
Large anterior fontanelle; brachycephaly; low hairline; small ears; low-set ears; ear asymmetry; thickened ear helices; deep-set eyes; hypertelorism; downslanting palpebral fissures; midface hypoplasia; flat nasal bridge; small chin; clinodactyly; mental retardation; developmental delay; speech delay; seizures; epileptic encephalopathy; hypotonia; feeding difficulties; oropharyngeal dysphasia; structural congenital heart defects; patent ductus arteriosus; strabismus; visual inattentiveness; polymicrogyria; leukoencephalopathy; prominent ventricles. |
Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG, Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p363, 2p161-p231, 4q2121-q221, 6q26-q27, and 21q2 American journal of medical genetics Part A146A:1637-54 2008 |
PubMed ID: 18536050 |
|
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 |
|
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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