Description:
SPHEROCYTOSIS, HEREDITARY; HS
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX,del(8)(p21.1p11.2)[19]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 8: DELETION Aneuploid Segment (-)8p21>8p11 |
| Remarks |
Small at birth; unusual facies with nystagmus; psychomotor retardation; intermittent splenomegaly; mild anemia; congenital spherocytosis; 46,XX,del(8) (pter>p21.1::p11.2>qter); similarly affected sib has the same deletion |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
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| 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 |
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| Chilcote RR, Le Beau MM, Dampier C, Pergament E, Verlinsky Y, Mohandas N, Frischer H, Rowley JD, Association of red cell spherocytosis with deletion of the short arm of chromosome 8. Blood69:156-9 1987 |
| PubMed ID: 3790722 |
| dbSNP |
dbSNP ID: 22866 |
| Gene Ontology |
GO:0005198 structural molecule activity |
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GO:0005200 structural constituent of cytoskeleton |
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GO:0005515 protein binding |
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GO:0005856 cytoskeleton |
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GO:0005886 plasma membrane |
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GO:0006887 exocytosis |
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GO:0007010 cytoskeleton organization and biogenesis |
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GO:0007165 signal transduction |
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GO:0008093 cytoskeletal adaptor activity |
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GO:0015629 actin cytoskeleton |
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GO:0016323 basolateral plasma membrane |
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GO:0019899 enzyme binding |
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GO:0030507 spectrin binding |
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GO:0045199 maintenance of epithelial cell polarity |
| NCBI Gene |
Gene ID:286 |
| NCBI GTR |
182900 SPHEROCYTOSIS, TYPE 1; SPH1 |
| OMIM |
182900 SPHEROCYTOSIS, TYPE 1; SPH1 |
| Omim Description |
ANKYRIN 1, INCLUDED; ANK1, INCLUDED |
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ANKYRIN, ERYTHROCYTIC, INCLUDED |
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ANKYRIN-R, INCLUDED; ANK, INCLUDED |
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SPHEROCYTOSIS, HEREDITARY; HS |
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SPHEROCYTOSIS, SEVERE ATYPICAL, DUE TO SUSPECTED ANKYRIN DEFECTSPHEROCYTOSIS, TYPE II, INCLUDED; SPH2, INCLUDED |
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