Description:
CHROMOSOME 1P36 DELETION SYNDROME
CHROMOSOME DELETION
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Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
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Peripheral vein
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|
Cell Type
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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
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|
ISCN
|
46,XX,del(1)(p36.33).arr 1p36.33p36.23(742428-7580330)x1
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|
Species
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Homo sapiens
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|
Common Name
|
Human
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|
Remarks
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|
| 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 |
No Data |
| Paternal age at time of delivery |
No Data |
| Rearrangement |
Terminal |
| Deletion Size in Mb |
7.5 |
| Dysmorphic Features |
| Large anterior fontanelle |
Yes |
| Microcephaly |
Yes |
| Brachycephaly |
Yes |
| Low hairline |
No |
| Small ears |
No |
| Low-set ears |
No |
| Ear asymmetry |
No |
| Thickened ear helices |
No |
| Synophrys |
No |
| Deep-set eyes |
Yes |
| Hypertelorism |
No |
| Small palpebral fissures |
No |
| Upslanting palpebral fissures |
Yes |
| Downslanting palepebral fissures |
No |
| Midface hypoplasia |
No |
| Flat nasal bridge |
No |
| Pointed chin |
Unknown |
| Clinodactyly |
No |
| Neurological |
| Mental retardation |
Unknown |
| Developmental delay |
Yes |
| Speech delay |
Yes |
| Seizures |
Yes |
| Epileptic encephalopathy |
No |
| Hypotonia |
Yes |
| Feeding difficulties |
Yes |
| Oropharyngeal dysphasia |
Yes |
| 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 |
No |
| Strabismus |
No |
| Visual inattentiveness |
Yes |
| Hearing problems |
Yes |
| Conductive hearing loss |
No |
| Sensorineural hearing loss |
Yes |
| Gastrointestinal |
| Constipation |
Unknown |
| Reflux |
Yes |
| Ulcer |
Unknown |
| Hiatal hernia |
Unknown |
| Discomfort |
Unknown |
| Endocrine |
| Thryroid function studies |
Unknown |
| Pubertal changes |
Unknown |
| MRI Abnormalities |
| Polymicrogyria |
No |
| Leukoencephalopathy |
No |
| Generalized atrophy |
No |
| Prominent ventricles |
No |
| Remarks |
Large anterior fontanelle; mild microcephaly; brachycephaly; deep-set eyes; upslanting palpebral fissures; short dorsiflexed halluces; developmental delay; speech delay; seizures; hypotonia; feeding difficulties; oropharyngeal dysphasia; visual inattentiveness; hearing problems; sensorineural hearing loss; gastrointestinal reflux. |
| 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 |
|