45,x/46,xy Mixed Gonadal Dysgenesis

Description

45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.

Clinical Features

Top most frequent phenotypes and symptoms related to 45,x/46,xy Mixed Gonadal Dysgenesis

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Micrognathia
  • Cryptorchidism
  • High palate
  • Visual impairment
  • Epicanthus
  • Intellectual disability, mild

And another 50 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

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



Mendelian

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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
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
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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