Results 31 to 40 of about 5,849,237 (150)

A third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15 [PDF]

Genetics in Medicine, 2000
We report on a boy with mosaicism for trisomy 15 and Prader-Willi syndrome (PWS) due to maternal isodisomy for chromosome 15. His phenotype is consistent with PWS and trisomy 15 mosaicism. Although our patient is unusual in having maternal isodisomy rather than the more common maternal heterodisomy, we think that his more severe PWS phenotype is due to
E, Olander, J, Stamberg, L, Steinberg, E A, Wulfsberg   +3 more
openaire   +2 more sources

A BUILDING WITH MOSAIC IN THE PATARA HARBOR STREET [PDF]

, 2022
This article is about a mosaic uncovered during the excavations in chamber II on the westportico of the Harbor Street of Patara that connects the city center to the harbor. The mosaicin question was located on the second floor of the relevant space.
Aktaş, Şevket, Şevket AKTAŞ
core   +1 more source

Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate

Molecular Cytogenetics, 2022
Background Double aneuploidy is common, especially in products of conception, frequently involving a combination of a sex chromosome and an acrocentric chromosome. Double autosomal trisomies are rare with only five cases reported.
Christina Mendiola, Veronica Ortega, Allison Britt, Rafael Fonseca, Gopalrao Velagaleti   +4 more
doaj   +1 more source

Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses

Molecular Cytogenetics, 2023
Background Few co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big challenge for us to predict fetal clinical outcomes with these chromosome abnormalities because of their ...
Shengfang Qin, Xueyan Wang, Jin Wang, Na Xi, Mengjia Yan, Yuxia He, Mengling Ye, Zhuo Zhang, Yan Yin   +8 more
doaj   +1 more source

Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl [PDF]

Clinical Case Reports, 2016
Key Clinical MessageMaternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader–Willi‐like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations.
Balbeur, Samuel, Grisart, Bernard, Parmentier, Benoit, Sartenaer, Daniel, Leonard, Pierre‐Emmanuel, Ullmann, Urielle, Boulanger, Sébastien, Leroy, Luc, Ngendahayo, Placide, Lungu‐Silviu, Constantin, Lysy, Philippe, Maystadt, Isabelle   +11 more
openaire   +2 more sources

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

, 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.
Luís Nunes, Mafalda Paiva, Ana Laura Fitas, Ana Isabel Cordeiro, Gonçalo Cordeiro-Ferreira   +4 more
core   +1 more source

Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy)

Balkan Journal of Medical Genetics, 2023
Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal trisomy 13, 18, and 21 and often for sex chromosomal aneuploidies (SCAs). Although the testing is also used for sex chromosomal aneuploidies, it is not as efficient as it is for ...
Cobanogullari H., Akcan N., Ergoren M.C.
doaj   +1 more source

Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani, Emma Delclaud, Paul Bruzeau, Richard Delorme, Anne‐Claude Tabet, Valérie Vantalon, Jonathan Levy, Pierre Ellul   +7 more
wiley   +1 more source

Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present perinatal molecular cytogenetic analysis of low-level mosaicism for trisomy 21 in a pregnancy with maternal uniparental disomy (UPD) of chromosome 21 in the fetus. Case report: A 39-year-old woman underwent amniocentesis at 17 weeks
Chih-Ping Chen, Tsang-Ming Ko, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Yun-Yi Chen, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang   +10 more
doaj   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source