1. Mendelian
  2. Rare Diseases
  3. CHROMOSOME 3q29 DELETION SYNDROME

3q29 Microdeletion Syndrome

Table of contents:

Description

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

Genes related to 3q29 Microdeletion Syndrome

  • BDH1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to 3q29 Microdeletion Syndrome

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cataract
  • Low-set ears

And another 65 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including infantile onset .

Alternative names

3q29 Microdeletion Syndrome Is also known as del(3)(q29), microdeletion 3q29 syndrome, 3q subtelomere deletion syndrome, monosomy 3q29, monosomy 3qter, 3qter deletion.

Researches and researchers

Doctors, researchs, and experts related to 3q29 Microdeletion Syndrome extracted from public data.

3q29 Microdeletion Syndrome Experts map



Current Researchs and researchers

  • BRIGHTON — Pr Mark O'DRISCOLL

    Investigator of research project

    • Institution/s:
      — Genome Damage and Stability Centre (GDSC), University of Sussex
    • Research area/topic::

      Characterising the functional consequences of genomic disorder associated gene copy number variation (CNV) on cell cycle checkpoint proficiency, DNA repair, genomic instability and signal transduction including its implications in 1q21.1 CNV, Wolf-Hirschhorn syndrome and 4p16.3 dup, 2p15p16 del, 11q23qter CNV, 3q29 del and 16p11.2 CNV


3q29 Microdeletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
BDH1.

By Fulgent Genetics Fulgent Genetics (United States).

BDH1
Specificity
100 %
Genes
100 %

You can get up to -7 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FACTOR XIII, A SUBUNIT, DEFICIENCY OF EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY GILLESPIE SYNDROME; GLSP