17q12 Microdeletion Syndrome

Description

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

Clinical Features

Top most frequent phenotypes and symptoms related to 17q12 Microdeletion Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cryptorchidism
  • High palate
  • Feeding difficulties

And another 58 symptoms. If you need more information about this disease we can help you.

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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

17q12 Microdeletion Syndrome Is also known as del(17)(q12), monosomy 17q12.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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17q12 Microdeletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
25 %
Monogenic Diabetes (MODY) Five Gene Evaluation (GCK,HNF1A,HNF1B,HNF4A,IPF1).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK, HNF4A, PDX1
Specificity
20 %
Genes
25 %
HNF1B DNA Sequencing and Deletion Evaluation.

By Athena Diagnostics Inc (United States).

HNF1B
Specificity
100 %
Genes
25 %
TCF2 (MODY5) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

HNF1B
Specificity
100 %
Genes
25 %
TCF2 (MODY5) DNA Sequencing and Deletion Test.

By Athena Diagnostics Inc (United States).

HNF1B
Specificity
100 %
Genes
25 %
Monogenic Diabetes (MODY) Four Gene Evaluation (GCK,HNF1A, HNF1B, HNF4A).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK, HNF4A
Specificity
25 %
Genes
25 %
Monogenic Diabetes (MODY) Three Gene Evaluation (GCK,HNF1A, HNF1B).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK
Specificity
34 %
Genes
25 %
Maturity-Onset Diabetes of the Young.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLK, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, NEUROG3, IER3IP1, RFX6, CP, PTF1A, CISD2, GLIS3, EIF2AK3, AKT2, GATA6, GCK, HNF4A, ABCC8, INS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
25 %

We have 119 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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