Chromosome 22q11.2 Deletion Syndrome, Distal

Description

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

Clinical Features

Top most frequent phenotypes and symptoms related to Chromosome 22q11.2 Deletion Syndrome, Distal

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Strabismus
And another 93 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.


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Chromosome 22q11.2 Deletion Syndrome, Distal Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PRKCG, RAF1, IL2RG, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, MET, NF1, SHOX, ANKRD11, SPRED1 , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
67 %
CRKL.

By Fulgent Genetics Fulgent Genetics in United States.

CRKL
Specificity
100 %
Genes
34 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
67 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
34 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
67 %
Proximal 22Q Gene deletion/duplication.

By Molecular Diagnostics Children's Hospital of Wisconsin in United States.

TBX1, CRKL
Specificity
50 %
Genes
34 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
BCR/ABL p210 Quantitative Test.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

BCR
Specificity
100 %
Genes
34 %
BCR/ABL Qualitative Test.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

BCR
Specificity
100 %
Genes
34 %
BCR/ABL (p210) quantification.

By CGC Genetics in Portugal.

ABL1, BCR
Specificity
50 %
Genes
34 %
RT-sequencing BCR/ABL.

By CGC Genetics in Portugal.

BCR
Specificity
100 %
Genes
34 %
RT-PCR t(9;22)(BCR/ABL).

By CGC Genetics in Portugal.

ABL1, BCR
Specificity
50 %
Genes
34 %
BCR/ABL (P190) quantification.

By CGC Genetics in Portugal.

ABL1, BCR
Specificity
50 %
Genes
34 %
Detection by FISH of t(9;22) BCR/ABL.

By CGC Genetics in Portugal.

ABL1, BCR
Specificity
50 %
Genes
34 %
Fluorescent in situ Hybridization - Hematopathology.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA in United States.

RUNX1, TP53, RB1, ATM, CDKN2A, FGFR1, KMT2A, IGH, JAK2, ABL1, PDGFRA, ETV6, BCR, RUNX1T1, PDGFRB, BCL2, PML, CBFB, RARA, TCF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
BCR-ABL Kinase Mutation Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

ABL1, BCR
Specificity
50 %
Genes
34 %
BCR-ABL Quantitative Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

ABL1, BCR
Specificity
50 %
Genes
34 %
BCR.

By Fulgent Genetics Fulgent Genetics in United States.

BCR
Specificity
100 %
Genes
34 %
Onco microarray for MDS/AML.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

RUNX1, TP53, WT1, IDH2, KRAS, NRAS, PTPN11, CBL, ALK, GATA2, NF1, FUS, GATA1, DNMT3A, EZH2, TFG, TERT, KMT2A, KIT, ASXL1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
34 %
BCR/ABL Qualitative.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

ABL1, BCR
Specificity
50 %
Genes
34 %
BCR/ABL Quantitative Major (p210) & Minor (p190).

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

ABL1, BCR
Specificity
50 %
Genes
34 %
ABL Kinase Domain Mutation Analysis.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

ABL1, BCR
Specificity
50 %
Genes
34 %
Leukemia (Philadelphia chromosome/translocation): BCR-ABL Rearrangement detection.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ABL1, BCR
Specificity
50 %
Genes
34 %
Guardant360.

By Guardant Health in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
34 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
34 %

Alternate names

Chromosome 22q11.2 Deletion Syndrome, Distal Is also known as distal chromosome 22q11.2 deletion syndrome;distal del(22)(q11.2); distal monosomy 22q11.2.


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