Description:
SMITH-MAGENIS SYNDROME; SMS
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Class |
Disorders of the Nervous System |
| 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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and In situ hybridization
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ISCN
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46,XX,del(17)(p11.2p11.2).ish del(17)(p11.2p11.2)(LIS1+,FLI-).arr 17p11.2(16007503-18693295)x1
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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 |
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| Remarks |
Clinically affected; failure to thrive; floppy; hypotonia; developmental delay; hearing loss; scoliosis; prenodular condition of the vocal cords; hoarse voice; dysphonia with edematous vocal cords with abnormal articulation; brachycephaly; midface hypoplasia; frontal bossing; broad face; mild synophrys, broad nasal bridge; posteriorly rotated ears; short broad hands; clinodactyly; mild syndactyly of the toes; sleep disturbances; hyperactivity; absent deep tendon reflexes of arms, ankles, and knees; left pelvic kidney with mild ureter 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 |
| View |
copy number variation |
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copy number variation |
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FISH Probes: FL1 gene in Smith-Magenis critical region in 17p11.2 - FITC (green), LIS1 in 17p13.3 - Texas Red. Both 17s are identified by the red LIS1signal. Deletion of the green FLI signal is seen in one 17. This line carries the deletion of 17p11.2. |
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karyotype Probes: FL1 gene in Smith-Magenis critical region in 17p11.2 - FITC (green), LIS1 in 17p13.3 - Texas Red. Both 17s are identified by the red LIS1signal. Deletion of the green FLI signal is seen in one 17. This line carries the deletion of 17p11.2. |
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