MCID: CHR203
MIFTS: 11

Chromosome 16p Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 16p Duplication

MalaCards integrated aliases for Chromosome 16p Duplication:

Name: Chromosome 16p Duplication 52
Partial Trisomy 16p 52
16p Duplication 52
Duplication 16p 52
16p Trisomy 52
Trisomy 16p 52

Classifications:



Summaries for Chromosome 16p Duplication

NIH Rare Diseases : 52 Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay , intellectual disability , behavioral problems and distinctive facial features. Most cases are not inherited , but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 16p Duplication, also known as partial trisomy 16p, is related to chromosome 16p13.3 duplication syndrome and chromosome 22q deletion.

Related Diseases for Chromosome 16p Duplication

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 chromosome 16p13.3 duplication syndrome 11.8
2 chromosome 22q deletion 10.2
3 cleft soft palate 10.2
4 hypertelorism 10.2
5 cleft palate, isolated 10.1
6 gilles de la tourette syndrome 10.1
7 diaphragmatic hernia, congenital 10.1
8 autism 10.1
9 hydrocephalus, congenital, 1 10.1
10 retinitis pigmentosa 11 10.1
11 microcephaly 10.1
12 tic disorder 10.1
13 partial duplication of chromosome 16 10.1
14 chromosomal triplication 10.0
15 hypertonia 10.0
16 hypotonia 10.0
17 chondrodysplasia punctata syndrome 10.0

Graphical network of the top 20 diseases related to Chromosome 16p Duplication:



Diseases related to Chromosome 16p Duplication

Symptoms & Phenotypes for Chromosome 16p Duplication

Drugs & Therapeutics for Chromosome 16p Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 16p Duplication

Genetic Tests for Chromosome 16p Duplication

Anatomical Context for Chromosome 16p Duplication

Publications for Chromosome 16p Duplication

Articles related to Chromosome 16p Duplication:

(show all 22)
# Title Authors PMID Year
1
Prenatal diagnosis of partial trisomy 16p and its association with congenital diaphragmatic hernia. 61
23533109 2013
2
Prenatal diagnosis of partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31→qter) associated with increased nuchal translucency and abnormal maternal serum biochemistry in the first trimester. 61
22482987 2012
3
Partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31 →qter) presenting with fetal ascites and ventriculomegaly: prenatal diagnosis and array comparative genomic hybridization characterization. 61
21199755 2010
4
Trisomy 16p: a longitudinal profile and photo essay. 61
16353251 2006
5
Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation. 61
15953407 2005
6
Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation. 61
11977164 2002
7
A case of insertional translocation resulting in partial trisomy 16p. 61
11164194 2000
8
Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2). 61
10451531 1999
9
No evidence of partial trisomy 16p in an autistic calendar savant with Tourette syndrome. 61
9259384 1997
10
De novo trisomy 16p. 61
9028462 1997
11
X/autosome translocation in three generations ascertained through an infant with trisomy 16p due to failure of spreading of X-inactivation. 61
8669435 1996
12
Partial trisomy 16p in an adolescent with autistic disorder and Tourette's syndrome. 61
7810587 1994
13
Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier. 61
8014973 1994
14
Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature. 61
1605261 1992
15
Trisomy 16p in a liveborn infant and review of trisomy 16p. 61
1536169 1992
16
Myelodysplastic syndrome in a kindred with ins(16) (p11.2). 61
3168314 1988
17
Successful management of congenital tracheal stenosis in infancy. 61
3440900 1987
18
Partial trisomy 16p due to maternal balanced translocation. 61
6492098 1984
19
["De novo" partial trisomy 16p (author's transl)]. 61
7337311 1981
20
Trisomy 16q21 = to qter. 61
7358382 1980
21
Five familial cases with a trisomy 16p syndrome due to translocation. 61
487639 1979
22
Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16. 61
739528 1978

Variations for Chromosome 16p Duplication

Expression for Chromosome 16p Duplication

Search GEO for disease gene expression data for Chromosome 16p Duplication.

Pathways for Chromosome 16p Duplication

GO Terms for Chromosome 16p Duplication

Sources for Chromosome 16p Duplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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