Description:
CHROMOSOME 1P36 DELETION SYNDROME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Country of Origin
|
USA
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XX,del(1)(p36.3).ish del(1)(p36.33)(CEB108/T7-,SKI-,D1S3739+).arr[hg19] 1p36.33p36.31(707086-5646357)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 |
Female |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: 1p36 Deletion Syndrome |
| (Baseline) |
| Inheritance |
| De novo |
Unknown |
| If no, give parental origin |
Paternal |
| Maternal age at time of delivery |
36 |
| Paternal age at time of delivery |
34 |
| Rearrangement |
Terminal |
| Deletion Size in Mb |
5.5 |
| 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 |
Yes |
| Hypertelorism |
Unknown |
| Small palpebral fissures |
Unknown |
| Upslanting palpebral fissures |
Unknown |
| Downslanting palepebral fissures |
Unknown |
| Midface hypoplasia |
Unknown |
| Flat nasal bridge |
Yes |
| Pointed chin |
Unknown |
| Clinodactyly |
Unknown |
| Neurological |
| Mental retardation |
Unknown |
| Developmental delay |
Yes |
| Speech delay |
Yes |
| Seizures |
Unknown |
| Epileptic encephalopathy |
Unknown |
| Hypotonia |
Yes |
| Feeding difficulties |
Unknown |
| Oropharyngeal dysphasia |
Unknown |
| Self-abusive behavior |
Yes |
| 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) |
Yes |
| Myopia |
Unknown |
| Strabismus |
Yes |
| 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 |
Yes |
| Pubertal changes |
Unknown |
| MRI Abnormalities |
| Polymicrogyria |
Unknown |
| Leukoencephalopathy |
Unknown |
| Generalized atrophy |
Unknown |
| Prominent ventricles |
Unknown |
| Remarks |
Clinically affected; deep-set eyes; flat nasal bridge; second toe overlaps; sacral dimple; developmental delay; speech delay; hypotonia; self-abusive behavior such as scratches skin to bleeding; pulmonary stenosis; hypermetropia; strabismus; wears glasses; abnormal thyroid function; 5.0 MB deletion on chromosome 1p36 (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 |
|
karyotype Texas Red detects SKI, FITC detects CEB108/T7,D1S3739, DAPI counterstain |
|