45,x/46,xy Mixed Gonadal Dysgenesis

Incidence and onset information

Alternative names

45,x/46,xy Mixed Gonadal Dysgenesis Is also known as 45,x0/46,xy mgd, 45,x0/46,xy mixed gonadal dysgenesis, 45,x/46,xy mgd.

Researches and researchers

Doctors, researchs, and experts related to 45,x/46,xy Mixed Gonadal Dysgenesis extracted from public data.

45,x/46,xy Mixed Gonadal Dysgenesis Experts map

Current Researchs and researchers

• HEIDELBERG — Pr Peter H. VOGT

  Investigator of research project - Director of department
  
  

  • Institution/s:
    — Abt. Gynäkologische Endokrinologie und Fertilitätsstörungen, Universitäts-Frauenklinik Heidelberg
  • Research area/topic::
    

    Diagnostic expression of GBY candidate genes in DSD (Disorders of Sex Development) patients with and without gonadoblastoma (national multicentre study)



• TÜBINGEN — Dr Ulrike A MAU-HOLZMANN

  Responsible for diagnostic tests - Investigator of research project
  
  

  • Institution/s:
    — Institut für Medizinische Genetik und angewandte Genomik Tübingen
  • Research area/topic::
    

    Chromosomal findings in infertile men and women

45,x/46,xy Mixed Gonadal Dysgenesis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SRY Molecular Analysis. By Baylor Miraca Genetics Laboratories (United States). SRY Specificity 100 % Genes 100 %
SRY-Related 46,XY and 46,XY sex reversal and gonadal dysgenesis. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). SRY Specificity 100 % Genes 100 %
SRY-Related 46,XY DSD and 46,XY CGD - Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States). SRY Specificity 100 % Genes 100 %
SRY-Related 46,XY DSD and 46,XY CGD - Del/Dup Analysis. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States). SRY Specificity 100 % Genes 100 %
Sex Determination (SRY), DNA Analysis. By Molecular Diagnostic Laboratory University of Alberta (Canada). SRY Specificity 100 % Genes 100 %
Y Chromosome Deletion Testing. By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation (United States). SRY Specificity 100 % Genes 100 %
Abnormal/Ambiguous Genitalia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...) View the complete list with 52 more genes Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 Close Specificity 2 % Genes 100 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...) View the complete list with 6 more genes Panel complete gene list SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3, AR, LHCGR, MAP3K1, NR5A1, OPHN1, ATRX Close Specificity 4 % Genes 100 %

Sources and references

You can check the following sources for additional information.

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