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,XY,del(1)(p36.3).arr[hg19]1p36.33p36.22(564620-7829761)
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 |
| 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 |
28 |
| Paternal age at time of delivery |
No Data |
| Rearrangement |
Terminal |
| Deletion Size in Mb |
7.75 |
| Dysmorphic Features |
| Large anterior fontanelle |
Yes |
| Microcephaly |
Yes |
| Brachycephaly |
Yes |
| Low hairline |
Yes |
| Small ears |
No |
| Low-set ears |
No |
| Ear asymmetry |
No |
| Thickened ear helices |
No |
| Synophrys |
No |
| Deep-set eyes |
Yes |
| Hypertelorism |
Yes |
| Small palpebral fissures |
No |
| Upslanting palpebral fissures |
No |
| Downslanting palepebral fissures |
Yes |
| Midface hypoplasia |
No |
| Flat nasal bridge |
Yes |
| Pointed chin |
Yes |
| Clinodactyly |
Yes |
| Neurological |
| Mental retardation |
Yes |
| Developmental delay |
Yes |
| Speech delay |
Yes |
| Seizures |
Yes |
| Epileptic encephalopathy |
Yes |
| Hypotonia |
Yes |
| Feeding difficulties |
Yes |
| Oropharyngeal dysphasia |
No |
| Self-abusive behavior |
Yes |
| Cardiovascular |
| Cardiomyopathy |
Yes |
| 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) |
No |
| Myopia |
Yes |
| Strabismus |
No |
| 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 |
No |
| Endocrine |
| Thryroid function studies |
No |
| Pubertal changes |
Not Applicable |
| MRI Abnormalities |
| Polymicrogyria |
No |
| Leukoencephalopathy |
No |
| Generalized atrophy |
Yes |
| Prominent ventricles |
Yes |
| Remarks |
Clinically affected; large anterior fontanelle; microcephaly; brachycephaly; low hairline; deep-set eyes; hypertelorism; downslanting palpebral fissures; flat nasal bridge; pointed chin; clinodactyly; cryptorchidism; mental retardation; developmental delay; speech delay; seizures (West syndrome); epileptic encephalopathy; neonatal hypotonia; feeding difficulties; self-abusive behavior; hypertrofic spongiform cardiomyopathy; structural congenital heart defects; patent ductus arteriosus; myopia; visual inattentiveness; hearing problems; bilateral sensorineural hearing loss; cataract of right eye; generalized atrophy; prominent ventricles; neuronal migration deficit; procedures include: coarctation of the aorta and ductus arteriosus; 7.2 MB deletion of chromosome 1p36 (453P22 deleted, de novo, apparently simple terminal truncation). |
| Kucharik M, Gnip A, Hyblova M, Budis J, Strieskova L, Harsanyova M, Pös O, Kubiritova Z, Radvanszky J, Minarik G, Szemes T, Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions PloS one15:e0238245 2020 |
| PubMed ID: 32845907 |
| |
| 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 |
|
|