GM22948
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
|
Country of Origin
|
USA
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,del(1)(p36.3). arr[hg19]
1p36.33p36.22(86311-
9628004)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
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 |
9.4 |
Dysmorphic Features |
Large anterior fontanelle |
Yes |
Microcephaly |
No |
Brachycephaly |
No |
Low hairline |
No |
Small ears |
No |
Low-set ears |
No |
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 |
Yes |
Pointed chin |
Yes |
Clinodactyly |
No |
Neurological |
Mental retardation |
No |
Developmental delay |
Yes |
Speech delay |
Yes |
Seizures |
No |
Epileptic encephalopathy |
No |
Hypotonia |
Yes |
Feeding difficulties |
Yes |
Oropharyngeal dysphasia |
No |
Self-abusive behavior |
No |
Cardiovascular |
Cardiomyopathy |
No |
Structural congenital heart defects |
No |
Patent foramen ovale |
No |
Patent ductus arteriosus |
No |
Ventricular septal defects |
No |
Atrial septal defect |
No |
Ebstein anomaly |
No |
Bicommisural aortic valve |
No |
Ophthalmologic and Audiologic |
Hypermetropia (farsightedness) |
No |
Myopia |
Yes |
Strabismus |
Yes |
Visual inattentiveness |
Yes |
Hearing problems |
Yes |
Conductive hearing loss |
No |
Sensorineural hearing loss |
Yes |
Gastrointestinal |
Constipation |
No |
Reflux |
Yes |
Ulcer |
No |
Hiatal hernia |
No |
Discomfort |
Yes |
Endocrine |
Thryroid function studies |
Unknown |
Pubertal changes |
Unknown |
MRI Abnormalities |
Polymicrogyria |
No |
Leukoencephalopathy |
No |
Generalized atrophy |
No |
Prominent ventricles |
Yes |
Remarks |
Clinically affected; large anterior fontanelle; midface hypoplasia; flat nasal bridge; pointed chin; developmental delay; speech delay; hypotonia; feeding difficulties; mild myopia; mild strabismus; visual inattentiveness; hearing problems (bilateral sensorineural hearing loss); gastroesophageal reflux with fundoplication and g tube; premature thelarchy; subglottic cyst removed from airway; closed sacral dimple; 9.4 MB deletion of chromosome 1p36 (476D13 deleted, 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 D1S3739,DAPI counterstain |
|
FISH Texas Red detects SKI, FITC detects D1S3739,DAPI counterstain |
|
FISH Spectrum Green detects CEB108/T7, DAPI counterstain |
|
FISH Spectrum Green detects CEB108/T7, DAPI counterstain |
|
karyotype Spectrum Green detects CEB108/T7, 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 |
- |
|
|