Description:
CHROMOSOME 16P12.1 DELETION SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
PIGI Consented Sample |
| 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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Race
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White
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Country of Origin
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AUSTRALIA
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Family Member
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2
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Family History
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Y
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Relation to Proband
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mother
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Confirmation
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Karyotypic analysis and Case history
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ISCN
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46,XX.arr[hg19]16p12.2(21,807,854-22,442,008)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 LINE assay |
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| Remarks |
Clinically affected mother of affected proband (GM25474); positive carrier for 16p12.1 deletion; schizophrenic features; depression; anxiety; sleeping problems; trouble concentrating; hallucinations; sister and two nephews are also affected - see extended family 3237; PMID 30190612. |
| Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S, Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Genetics in medicine : official journal of the American College of Medical Genetics: 2018 |
| PubMed ID: 30190612 |
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