Results 101 to 110 of about 5,849,237 (150)

Non‐mosaic Trisomy 20 in Amniotic Fluid Cultures With Minor Anomalies in the Fetus

open access: yes, 1989
A non‐mosaic trisomy 20 was discovered in all cells in two separate cultures from an age‐related genetic amniocentesis. Karyotypes of cells obtained via amniocentésis at the time of termination and of cells cultured from the placenta gave the same ...
Prouty, L. A., Myers, T. L.
core   +1 more source

Prenatal diagnosis of low-level trisomy 15 mosaicism with a favorable outcome

open access: yesTaiwanese Journal of Obstetrics and Gynecology, 2020
Qi Zhao   +4 more
openaire   +3 more sources

Mosaic Trisomy 18 in a Five-Month-Old Infant - Case Report [PDF]

open access: yes, 2013
Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome.
Fitas, AL   +4 more
core  

Mosaic Down Syndrome versus Standard Trisomy 21 : A Proposed Comparative Study

open access: yes, 2000
v, 19 p.The two types of Down syndrome that involve errors of nondisjunction are Standard Trisomy 21 and Mosaic. Whereas every somatic cell of a Trisomy 21 individual contains an extra copy of chromosome 21, somatic cells of Mosaic individuals are a ...
Paulson, Rebecca L.
core   +1 more source

A PRENATALLY SONOGRAPHICALLY DIAGNOSED CONOTRUNCAL ANOMALY WITH MOSAIC TYPE TRISOMY 21 AND 22q11.2 MICRODELETION/DIGEORGE SYNDROME

open access: yes, 2009
A prenatally sonographically diagnosed conotruncal anomaly with mosaic ope trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly.
Balci, S.   +4 more
core  

MOSAIC at the ELT : a unique instrument for the largest ground-based telescope

open access: yes
MOSAIC is the Multi-Object Spectrograph (MOS) for the 39m Extremely Large Telescope (ELT) of the European Southern Observatory (ESO), with unique capabilities in terms of multiplex, wavelength coverage and spectral resolution.
MOSAIC Consortium
core   +1 more source

Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue

open access: yesCytogenetic and Genome Research, 2015
Parental balanced translocation is one of the traditional indications for invasive prenatal diagnosis. Usually, the diagnostic process is straightforward. Sometimes, however, results are not entirely clear and may reveal unexpected biological processes.
Natacci F.   +7 more
openaire   +4 more sources
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Delineation of a clinical syndrome caused by mosaic trisomy 15

American Journal of Medical Genetics, 1996
We report on a boy with mosaic trisomy 15. The clinical manifestations are compared with those of the few cases reported up to now. A clinical syndrome is delineated consisting of a characteristic shape of the nose and other minor craniofacial anomalies, as well as typical deformities of the hands and feet.
Bühler EM   +3 more
exaly   +4 more sources

A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin [PDF]

open access: yesEuropean Journal of Medical Genetics, 2020
Aneuploidy mosaicism involving two complementary different autosomal trisomy cell lines is extremely rare. Although a mosaic double trisomy 8/trisomy 21 has been described in literature, this is the first report of Warkany (+8)-Down (+21) syndrome due to
Conny Ma van Ravenswaaij-Arts
exaly   +3 more sources

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