GM22977
LCL from B-Lymphocyte
Description:
CHROMOSOME 1P36 DELETION SYNDROME
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities dbGaP |
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,XX.ish del(1)(p36.33)(CEB108/T7-,SKI-,D1S3739+).arr 1p36.33(615320-2241020)x1,19p13.12(13831885-13947513)x3
|
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 |
Female |
|
Data Elements |
Clinical Element Type: 1p36 Deletion Syndrome |
(Baseline) |
Inheritance |
De novo |
Unknown |
If no, give parental origin |
Maternal |
Maternal age at time of delivery |
32 |
Paternal age at time of delivery |
32 |
Rearrangement |
Terminal |
Deletion Size in Mb |
2.2 |
Dysmorphic Features |
Large anterior fontanelle |
No |
Microcephaly |
No |
Brachycephaly |
No |
Low hairline |
Yes |
Small ears |
Yes |
Low-set ears |
No |
Ear asymmetry |
No |
Thickened ear helices |
Yes |
Synophrys |
No |
Deep-set eyes |
Yes |
Hypertelorism |
No |
Small palpebral fissures |
Yes |
Upslanting palpebral fissures |
No |
Downslanting palepebral fissures |
Yes |
Midface hypoplasia |
No |
Flat nasal bridge |
No |
Pointed chin |
No |
Clinodactyly |
Yes |
Neurological |
Mental retardation |
Yes |
Developmental delay |
Yes |
Speech delay |
Yes |
Seizures |
No |
Epileptic encephalopathy |
No |
Hypotonia |
Yes |
Feeding difficulties |
No |
Oropharyngeal dysphasia |
No |
Self-abusive behavior |
Yes |
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 |
No |
Strabismus |
Yes |
Visual inattentiveness |
Unknown |
Hearing problems |
No |
Conductive hearing loss |
No |
Sensorineural hearing loss |
No |
Gastrointestinal |
Constipation |
Yes |
Reflux |
No |
Ulcer |
No |
Hiatal hernia |
No |
Discomfort |
No |
Endocrine |
Thryroid function studies |
No |
Pubertal changes |
No |
MRI Abnormalities |
Polymicrogyria |
No |
Leukoencephalopathy |
No |
Generalized atrophy |
No |
Prominent ventricles |
No |
Remarks |
Clinically affected; low hairline; small ears; thickened ear helices; deep-set eyes; small, downslanting palpebral fissures; 5th finger bilateral clinodactyly; mental retardation; developmental delay; speech delay; hypotonia; self-abusive behavior; strabismus; bifrontal and periatrial white matter changes; normal echocardiogram and EKG; procedures include: left strabismus surgery; 1.5-2.0 MB deletion on chromosome 1p36 (apparently simple terminal truncation). |
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 |
|
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 |
Split Ratio |
1:5 |
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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