Mosaic embryo transfer—first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15

Autor: Kamilla Schlade-Bartusiak, Ph.D., Emma Strong, Ph.D., Olive Zhu, M.Sc., Jessica Mackie, M.Sc., Diane Salema, M.Sc., Michael Volodarsky, Ph.D., Jeffrey Roberts, M.D., Michelle Steinraths, M.D.

Publikováno v: F&S Reports, Vol 3, Iss 3, Pp 192-197 (2022)

Objective: To inform clinicians of the first known case of a live born diagnosed with syndromic partial trisomy 15 and maternal uniparental disomy 15 resulting from a mosaic embryo transfer (MET). We believe that this case will highlight the need for

Externí odkaz: https://doaj.org/article/222054aac2db4e7bb68cddef9e1e09dc

Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

Autor: Hanna Breet, Yvonne J. Vos, Trijnie Dijkhuizen, Carlijn L. Voorbij‐Vierstra, Maria C. Bolling, Peter C. van den Akker

Publikováno v: American Journal of Medical Genetics, Part A, 896-898. Wiley
STARTPAGE=896;ENDPAGE=898;ISSN=1552-4825;TITLE=American Journal of Medical Genetics, Part A

Uncombable hair syndrome is a hair shaft condition in which the hair is frizzy, light in color (silver to light brown), and cannot be combed flat. Autosomal dominant (with complete or incomplete penetrance), autosomal recessive, and sporadic cases ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0eb9170704795931128f0dd9998b06b
https://doi.org/10.1002/ajmg.a.63086

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Restoration of keratinocytic phenotypes in autonomous trisomy-rescued cells

Autor: Kazuhiro Kajiwara, Osamu Samura, Akihiro Umezawa, Aikou Okamoto, Tohru Kiyono, Momoko Inoue, Ryo Takagi, Haruhiko Sago, Ayumi Yamaguchi, Akiko Tanuma-Takahashi, Hidenori Akutsu

Publikováno v: Stem Cell Research & Therapy, Vol 12, Iss 1, Pp 1-11 (2021)
Stem Cell Research & Therapy

Background An extra copy of chromosome 21 in humans can alter cellular phenotypes as well as immune and metabolic systems. Down syndrome is associated with many health-related problems and age-related disorders including dermatological abnormalities.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81f65239eb8c5e731f7646b51e2f69eb
https://doi.org/10.1186/s13287-021-02448-w

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