MCID: CHR206
MIFTS: 8

Chromosome 16q Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 16q Deletion

MalaCards integrated aliases for Chromosome 16q Deletion:

Name: Chromosome 16q Deletion 53
Partial Monosomy 16q 53
16q Deletion 53
16q Monosomy 53
Deletion 16q 53
Monosomy 16q 53

Classifications:



Summaries for Chromosome 16q Deletion

NIH Rare Diseases : 53 Chromosome 16q deletionis a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 16q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 16q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 16. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.

MalaCards based summary : Chromosome 16q Deletion, also known as partial monosomy 16q, is related to fryns syndrome. Affiliated tissues include testes.

Related Diseases for Chromosome 16q Deletion

Diseases related to Chromosome 16q Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fryns syndrome 9.9

Symptoms & Phenotypes for Chromosome 16q Deletion

Drugs & Therapeutics for Chromosome 16q Deletion

Search Clinical Trials , NIH Clinical Center for Chromosome 16q Deletion

Genetic Tests for Chromosome 16q Deletion

Anatomical Context for Chromosome 16q Deletion

MalaCards organs/tissues related to Chromosome 16q Deletion:

41
Testes

Publications for Chromosome 16q Deletion

Articles related to Chromosome 16q Deletion:

# Title Authors Year
1
Chromosome 16q deletion and loss of E-cadherin expression in Hodgkin and Reed-Sternberg cells. ( 11340571 )
2001

Variations for Chromosome 16q Deletion

Expression for Chromosome 16q Deletion

Search GEO for disease gene expression data for Chromosome 16q Deletion.

Pathways for Chromosome 16q Deletion

GO Terms for Chromosome 16q Deletion

Sources for Chromosome 16q Deletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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