Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 227,741,295 papers from all fields of science
Search
Sign In
Create Free Account
Chromosome 14, trisomy mosaic
Known as:
Trisomy 14 mosaic
, Trisomy 14 mosaicism
, Trisomy 14 mosaicism syndrome
A rare chromosomal disorder characterized by trisomy of chromosome 14 in some cells in the body. It manifests with intrauterine growth retardation…
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
4 relations
Broader (3)
Chromosomes, Human, Pair 14
Mosaicism
Trisomy
chromosome 14 trisomy syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2008
Review
2008
Is trisomy 14 mosaic a clinically recognizable syndrome?—Case report and review
Erika von Sneidern
,
Y. Lacassie
American Journal of Medical Genetics. Part A
2008
Corpus ID: 33724374
Trisomy 14 mosaicism is a rare condition. Since its first description in 1975 by Rethoré et al., approximately 20 patients have…
Expand
2005
2005
Monozygotic twins concordant for blood karyotype, but phenotypically discordant: A case of “mosaic chimerism”
S. Bourthoumieu
,
C. Yardin
,
+5 authors
F. Esclaire
American Journal of Medical Genetics. Part A
2005
Corpus ID: 25667969
We report on 23 years old discordant monozygotic (MZ) twins, one with minor anomalies and mental delay, the other one being…
Expand
Review
2002
Review
2002
Diploid/triploid mosaicism in dysmorphic patients
I. M. van de Laar
,
G. Rabelink
,
R. Hochstenbach
,
J. Tuerlings
,
J. Hoogeboom
,
J. Giltay
Clinical Genetics
2002
Corpus ID: 42465841
Diploid/triploid mosaicism is a dysmorphology syndrome consisting of mental retardation, truncal obesity, body and/or facial…
Expand
2000
2000
Preimplantation diagnosis after assisted reproduction techniques for genetically-determined male infertility
L. Gianaroli
,
M. Magli
,
A. Ferraretti
,
E. Iammarrone
Journal of Endocrinological Investigation
2000
Corpus ID: 44835551
One hundred and thirty-six cycles with a poor prognosis for full-term pregnancy underwent preimplantation genetic diagnosis (PGD…
Expand
1991
1991
Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia
E. Wulfsberg
,
William C. Wassel
,
Cynthia A. Polo
Clinical Genetics
1991
Corpus ID: 24985169
Diploid/triploid mosaicism is an uncommon clinical syndrome with a subtle but distinctive phenotype. Characteristic features…
Expand
Review
1991
Review
1991
Trisomy 14 mosaicism in a 5-year-old boy.
P. Vachvanichsanong
,
U. Jinorose
,
Pantipya Sangnuachua
American journal of medical genetics
1991
Corpus ID: 34713570
We report on a 5-year-old boy with failure to thrive, mental retardation, a broad nose, hypertelorism, slight antimongoloid slant…
Expand
Review
1988
Review
1988
MCA/MR syndrome in a female infant with tetraploidy mosaicism: review of the human polyploid phenotype.
Golder N Wilson
,
M. Vekemans
,
P. Kaplan
American journal of medical genetics
1988
Corpus ID: 28383321
We report on a 3-month-old girl with unusual facial appearance, short neck with low posterior hairline, wide chest, valvular…
Expand
1988
1988
Trisomy 14 mosaicism leading to cytogenetic discrepancies in chorionic villi sampled at different times
R. Wegner
,
R. Hohle
,
G. Karkut
,
K. Sperling
,
D-1000 Berlin
,
Wegner
Prenatal Diagnosis
1988
Corpus ID: 6108564
Short‐ and long‐term cultures of chorionic villi obtained in the 11th week of pregnancy revealed trisomy 14. After induced…
Expand
1987
1987
Trisomy 14 mosaicism syndrome.
M. Lipson
American journal of medical genetics
1987
Corpus ID: 44538995
A girl with multiple anomalies was found to have trisomy 14 mosaicism. The physical findings in reported cases indicate the…
Expand
Review
1979
Review
1979
Trisomy 14 mosaicism: case report and review.
V. P. Johnson
,
T. Aceto
,
C. Likness
American journal of medical genetics
1979
Corpus ID: 41867813
Complete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE