MCID: MSC016
MIFTS: 26

Mosaic Trisomy 14

Categories: Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Mosaic Trisomy 14

MalaCards integrated aliases for Mosaic Trisomy 14:

Name: Mosaic Trisomy 14 20 58 29
Mosaic Trisomy Chromosome 14 20 58
Trisomy 14 Mosaicism 20 58
Chromosome 14, Trisomy Mosaic 71

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Mosaic Trisomy 14

GARD : 20 Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction; failure to to thrive; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.

MalaCards based summary : Mosaic Trisomy 14, also known as mosaic trisomy chromosome 14, is related to chromosomal triplication and cleft palate, isolated. Affiliated tissues include eye and heart, and related phenotypes are intellectual disability and failure to thrive

Related Diseases for Mosaic Trisomy 14

Diseases related to Mosaic Trisomy 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 chromosomal triplication 10.6
2 cleft palate, isolated 10.3
3 maternal uniparental disomy 10.2
4 dowling-degos disease 1 10.2
5 hypertelorism 10.1
6 cryptorchidism, unilateral or bilateral 10.1
7 precocious puberty 10.1
8 hypotonia 10.1
9 uniparental disomy of chromosome 14 10.1
10 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.0
11 macroglossia 10.0
12 tetralogy of fallot 10.0
13 down syndrome 10.0
14 alacrima, achalasia, and mental retardation syndrome 10.0
15 schaaf-yang syndrome 10.0
16 temple syndrome 10.0
17 microcephaly 10.0
18 clubfoot 10.0
19 aortopulmonary window 10.0
20 encephalocele 10.0
21 penis agenesis 10.0
22 nasal encephalocele 10.0
23 split-hand/foot malformation 1 10.0
24 chromosome 2q35 duplication syndrome 10.0
25 hypomelanosis of ito 10.0
26 incontinentia pigmenti 10.0
27 ptosis 10.0
28 microphthalmia 10.0
29 patau syndrome 10.0
30 ventricular septal defect 10.0
31 heart septal defect 10.0
32 dermatitis 10.0
33 holoprosencephaly 10.0
34 polyhydramnios 10.0
35 fundus dystrophy 10.0
36 cleft lip 10.0
37 47,xyy 10.0
38 chromosome 14q duplication 10.0
39 pectus carinatum 10.0
40 cleft lip/palate 10.0
41 isolated split hand-split foot malformation 10.0
42 inherited retinal disorder 10.0
43 hyperpigmentation of the skin 10.0
44 alobar holoprosencephaly 10.0

Graphical network of the top 20 diseases related to Mosaic Trisomy 14:



Diseases related to Mosaic Trisomy 14

Symptoms & Phenotypes for Mosaic Trisomy 14

Human phenotypes related to Mosaic Trisomy 14:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
4 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
5 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
6 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
7 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
8 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
9 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
10 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
11 abnormality of chromosome segregation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002916
12 abnormality of cardiovascular system morphology 31 hallmark (90%) HP:0030680
13 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
14 microtia 58 31 frequent (33%) Frequent (79-30%) HP:0008551
15 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
16 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
17 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
18 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
19 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
20 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
21 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
22 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
23 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
24 ectopic anus 58 31 frequent (33%) Frequent (79-30%) HP:0004397
25 seizure 31 frequent (33%) HP:0001250
26 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
27 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
28 aplasia/hypoplasia affecting the eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0008056
29 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
30 lower limb asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0100559
31 seizures 58 Frequent (79-30%)
32 malformation of the heart and great vessels 58 Very frequent (99-80%)

Drugs & Therapeutics for Mosaic Trisomy 14

Search Clinical Trials , NIH Clinical Center for Mosaic Trisomy 14

Genetic Tests for Mosaic Trisomy 14

Genetic tests related to Mosaic Trisomy 14:

# Genetic test Affiliating Genes
1 Mosaic Trisomy 14 29

Anatomical Context for Mosaic Trisomy 14

MalaCards organs/tissues related to Mosaic Trisomy 14:

40
Eye, Heart

Publications for Mosaic Trisomy 14

Articles related to Mosaic Trisomy 14:

(show all 47)
# Title Authors PMID Year
1
Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14. 61
33202412 2020
2
Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation. 61
32187602 2020
3
Mosaic trisomy 14 and aorta-pulmonary window association: A case report. 61
31219438 2019
4
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease. 61
30293986 2019
5
Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies. 61
31786569 2019
6
A case report of the neurocognitive and behavioral phenotype of mosaic trisomy 14. 61
30714851 2018
7
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. 61
30181735 2018
8
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism. 61
29311684 2018
9
CASE-REPORT Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly. 61
27966762 2016
10
Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review. 61
27286879 2016
11
A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findings. 61
26824977 2016
12
Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl. 61
27014449 2016
13
Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability. 61
27559361 2016
14
Sphincterplasty for Velopharyngeal Insufficiency in the Child Without a Cleft-Palate: Etiologies and Speech Outcomes. 61
26468787 2015
15
Mosaic Trisomy 14 in a Newborn with Multiple Malformations: When Chromosomal Microarray is a Clue to Diagnosis. 61
26357728 2015
16
Monochorionic twins discordant for mosaic trisomy 14. 61
24458767 2014
17
Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis. 61
25276227 2014
18
A comparative study of standard cytogenetic evaluation and molecular karyotyping for products of conception. 61
24193007 2013
19
Mosaic trisomy 14 at amniocentesis: prenatal diagnosis and literature review. 61
24075393 2013
20
Complete trisomy 14 mosaicism: first live-born case in Korea. 61
23133487 2012
21
Congenital ocular anomaly in an infant with trisomy 14 mosaicism. 61
22870035 2012
22
Trisomy 14 mosaicism: clinical and cytogenetic findings in an adult. 61
21857505 2012
23
Nasal encephalocele in a child with mosaic trisomy 14. 61
19369861 2009
24
Low-level mosaicism of trisomy 14: phenotypic and molecular characterization. 61
18412278 2008
25
Trisomy 14 Mosaicism: a case without evidence of neurodevelopmental delay and a review of the literature. 61
17893842 2007
26
General anesthesia for cardiac catheterization in a child with trisomy 14 mosaicism. 61
15920234 2005
27
First-trimester scan in trisomy 14 mosaicism. 61
15300752 2004
28
Trisomy 14 mosaicism: a case report and review of the literature. 61
14762456 2004
29
Hypomelanosis of ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism. 61
10818220 2000
30
Twin pregnancy discordant for trisomy 14 mosaicism: prenatal sonographic findings. 61
9621382 1998
31
Mosaic trisomy 14 with hepatic involvement. 61
9259957 1997
32
Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11). 61
7937590 1994
33
Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14. 61
8503447 1993
34
Natural history of mosaic trisomy 14 syndrome. 61
1456290 1992
35
Trisomy 14 mosaicism in a 5-year-old boy. 61
1887854 1991
36
Prenatal diagnosis of trisomy for the distal two-thirds of the long arm of chromosome 14 (q21----qter). 61
2367342 1990
37
Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14. 61
3211857 1988
38
Trisomy 14 mosaicism leading to cytogenetic discrepancies in chorionic villi sampled at different times. 61
3375201 1988
39
Trisomy 14 mosaicism syndrome. 61
3565467 1987
40
Trisomy 14 mosaicism in a liveborn male: clinical report and review of the literature. 61
3515939 1986
41
Trisomy 14 mosaicism in a 2 year old girl. 61
3950941 1986
42
Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother. 61
4050866 1985
43
A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils. 61
6512839 1984
44
A case of mosaic trisomy 14 due to an isochromosome, i(14q). 61
6748330 1984
45
Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation. 61
7253003 1981
46
[Mosaic trisomy 14 due to an iso dicentric chromosome (author's transl)]. 61
6971604 1980
47
Trisomy 14 mosaicism: case report and review. 61
474633 1979

Variations for Mosaic Trisomy 14

Expression for Mosaic Trisomy 14

Search GEO for disease gene expression data for Mosaic Trisomy 14.

Pathways for Mosaic Trisomy 14

GO Terms for Mosaic Trisomy 14

Sources for Mosaic Trisomy 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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