1. Mendelian
  2. Rare Diseases
  3. CHROMOSOME 1q21.1 DUPLICATION SYNDROME

1q21.1 Microduplication Syndrome

Table of contents:

Description

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

Genes related to 1q21.1 Microduplication Syndrome

  • ADAMTSL4

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to 1q21.1 Microduplication Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Strabismus

And another 31 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.)
— No data available about the known clinical features onset.

Alternative names

1q21.1 Microduplication Syndrome Is also known as trisomy 1q21.1, dup(1)(q21.1).

Researches and researchers

Doctors, researchs, and experts related to 1q21.1 Microduplication Syndrome extracted from public data.

1q21.1 Microduplication 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


1q21.1 Microduplication Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ADAMTSL4.

By Institute for Human Genetics University Clinic Freiburg (Germany).

ADAMTSL4
Specificity
100 %
Genes
100 %
ADAMTSL4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ADAMTSL4
Specificity
100 %
Genes
100 %
Familial ectopia lentis (sequence analysis of ADAMTSL4 gene).

By CGC Genetics (Portugal).

ADAMTSL4
Specificity
100 %
Genes
100 %
Familial ectopia lentis (sequence analysis of ADAMTSL4 gene).

By CGC Genetics (Portugal).

ADAMTSL4
Specificity
100 %
Genes
100 %
Autosomal Recessive Isolated Ectopia Lentis-2 via ADAMTSL4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ADAMTSL4
Specificity
100 %
Genes
100 %
Ectopia lentis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

ADAMTSL4, FBN1
Specificity
50 %
Genes
100 %
Ectopia lentis NGS panel.

By Connective Tissue Gene Tests (United States).

ADAMTSL4, FBN1
Specificity
50 %
Genes
100 %
Ectopia lentis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

ADAMTSL4, FBN1
Specificity
50 %
Genes
100 %

You can get up to 32 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RUSSELL-SILVER SYNDROME, X-LINKED FAMILIAL ADENOMATOUS POLYPOSIS 2; FAP2 LENNOX-GASTAUT SYNDROME PROLIDASE DEFICIENCY SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12 MONOSOMY 5P GLIOMA SUSCEPTIBILITY 3; GLM3