Description:
SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| 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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Clinical summary/Case history
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ISCN
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arr Yq11.223q11.23(23948756-27079691)x2
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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; azoospermic with an unusual organization of the AZFc region of the Y chromosome; testicular maturation arrest determined by testicular biopsy; the following Y chromosome loci were analyzed by PCR: SRY+,RPS4Y+,ZFY+,TGIF2LY+,PCDH11Y+,TSPY+,AMELY+,TBL1Y+, PRKY+,DYZ3+,USP9Y+,DBY+,UTY+,TMSB4Y+,KALP+,VCY+,NLGN4Y+,STSP+,XKRY+,CDY2+,HSFY+,JARIDID+, EIF1AY+, RBMY1+,PRY+,BPY2+,DAZex11+,DAZex3+, CDY1+,DYZ1+,RPS4Y2+ |
| 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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| Park MY, Kang HM, Hwang SH, Park HJ, Park NC, Choi KU, Kim HH, Chang CL, and Lee EY.
, Evaluation of a multiplex PCR kit used for detecting Y chromosome microdeletions]. Korean J Lab Med30(4):432-9 2010 |
| PubMed ID: 20805717 |
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| Repping S, van Daalen SK, Brown LG, Korver CM, Lange J, Marszalek JD, Pyntikova T, van der Veen F, Skaletsky H, Page DC, Rozen S, High mutation rates have driven extensive structural polymorphism among human Y chromosomes Nature genetics38:463-7 2005 |
| PubMed ID: 16501575 |
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