Partial Chromosome Y Deletion

Description

Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.

Clinical Features

Phenotypes and symptoms related to Partial Chromosome Y Deletion

  • Cryptorchidism
  • Decreased testicular size
  • Male infertility
  • Oligospermia
  • Abnormal spermatogenesis
  • Non-obstructive azoospermia

Incidence and onset information

— Based on the latest data available PARTIAL CHROMOSOME Y DELETION have a estimated prevalence of 20.8 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Partial Chromosome Y Deletion Is also known as male sterility due to chromosome y deletion.

Researches and researchers

Doctors, researchs, and experts related to Partial Chromosome Y Deletion extracted from public data.

Partial Chromosome Y Deletion 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::

      Functional analysis of AZFa genes DBY and USP9Y in male germline (genetics of male infertility)


  • 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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Partial Chromosome Y Deletion Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Y-microdeletion: DAZ/SRY.

By United States Air Force Molecular Diagnostic Laboratory United States Air Force (United States).

SRY, DAZ1
Specificity
50 %
Genes
13 %
Y-chromosome micro deletions.

By GeneTech ATS GeneTech Private Limited (India).

DAZ1
Specificity
100 %
Genes
13 %
Y Chromosome Microdeletion, DNA Analysis (non-NY).

By Quest Diagnostics Nichols Institute Chantilly (United States).

DAZ1
Specificity
100 %
Genes
13 %
Y Chromosome Microdeletion, DNA Analysis (NY).

By Quest Diagnostics Nichols Institute Chantilly (United States).

DAZ1
Specificity
100 %
Genes
13 %
Spermatogenic Failure , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics (Spain).

AURKC, USP9Y, CATSPER1, SYCP3, KLHL10, DPY19L2, SEPT12, SPATA16, NR5A1
Specificity
12 %
Genes
13 %
Phosphorus Male Infertility Panel.

By Phosphorus Diagnostics LLC (United States).

SRY, AURKC, USP9Y, CATSPER1, CFTR, DPY19L2, FSHB, FSHR, AR, LHCGR
Specificity
10 %
Genes
13 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
13 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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