Results 11 to 20 of about 42,857 (292)

Categories of Cutaneous Mosaicism

JEADV Clinical Practice
In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant ...
Rudolf Happle
doaj   +2 more sources

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]

, 2000
The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Martorell, L., Monckton, D.G., Loreto Martorell, José Gamez, Gamez, J., Baiget, M., Darren G Monckton, Montserrat Baiget   +7 more
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The embryo mosaicism profile of next-generation sequencing PGT-A in different clinical conditions and their associations

Frontiers in Reproductive Health, 2023
IntroductionUniform chromosome abnormalities are commonly seen in early pregnancy loss, with analyses of the product of conception suggesting the presence of mosaic autosomal trisomy in ∼10% of cases.
Hadassa Campos Heiser, Natalia Fagundes Cagnin, Mariane Uehara de Souza, Taccyanna Mikulski Ali, Paula Regina Queiroz Estrada, Camila Cristina Wuaquim Dantas de Souza, Bruno Coprerski, Carmen Rubio, Marcia Riboldi   +8 more
doaj   +1 more source

Germinal and somatic trisomy 21 mosaicism : how common is it, what are the implications for individual carriers and how does it come about? [PDF]

, 2010
It is well known that varying degrees of mosaicism for Trisomy 21, primarily a combination of normal and Trisomy 21 cells within individual tissues, may exist in the human population. This involves both Trisomy 21 mosaicism occurring in the germ line and
Maj Hulten, Jonasson, Jon,, Jon Jonasson, Ann Nordgren, Nordgren, Ann, Iwarsson, Erik,, Nordgren, Ann,, Iwarsson, Erik, Nordgren, A,, Jonasson, Jon, Erik Iwarsson, Hultén, Maj A., Jonasson, J, Hulten, MA, Iwarsson, E,, Hultén, Maj A,   +15 more
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Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

Frontiers in Genetics, 2023
Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods.
Na Ma, Zhenhua Zhu, Jiancheng Hu, Jialun Pang, Shuting Yang, Jing Liu, Jing Chen, Wanglan Tang, Haiyan Kuang, Rong Hu, Zhuo Li, Hua Wang, Ying Peng, Hui Xi   +13 more
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On the origin of trisomy 21 Down syndrome [PDF]

, 2008
Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Nikos Papadogiannakis, Maj A Hultén, Papadogiannakis, Nikos, Westgren, Magnus, Jonsson, Anna Maria, Tankimanova, Maira, Patel, Suketu D., Iwarsson, Erik, Maira Tankimanova, Anna Jonsson, Magnus Westgren, Erik Iwarsson, Hultén, Maj A., Suketu D Patel   +13 more
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#347 : Factors Related to Mosaicism of Human Embryo: Conventional Statistics and Machine Learning Analysis

Fertility & Reproduction, 2023
Background and Aims: Mosaicism arises from errors in the cell division process and can lead to cells containing a combination of normal and mutated genes. Mosaic embryos can produce healthy babies.
Huy-Phuong Tran, Long Nu-Hai Nguyen, Tuong-Nguyen Ho, Vy Nguyen-Thao Do, Loc-Thai Ly, Tuyet Thi-Diem Hoang   +5 more
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MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males

BMC Medicine, 2023
Background Germline mosaicisms could be inherited to offspring, which considered as “de novo” in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously.
Yongxin Wen, Jiaping Wang, Qingping Zhang, Xiaoxu Yang, Liping Wei, Xinhua Bao   +5 more
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Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy

Molecular Genetics & Genomic Medicine, 2023
Background Emery–Dreifuss muscular dystrophy (EDMD2) is a rare form of muscular dystrophy that is inherited as an autosomal dominant trait. In some patients, it is inherited from parental mosaicism, and this increases the recurrence risk significantly ...
Yanshu Xie, Jingsi Luo, Jingzi Zhong, Xu Liu, Jing Tang, Dan Lan   +5 more
doaj   +1 more source

Predicting fetoplacental mosaicism during cfDNA-based NIPT.

, 2020
Purpose of review Cell-free DNA-based noninvasive prenatal testing (cfDNA-based NIPT) using maternal blood is highly sensitive for detecting fetal trisomies.
Neofytou, M.
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