Results 1 to 10 of about 47,173 (203)

Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review [PDF]

Current Issues in Molecular Biology
Germline mosaicism in autosomal recessive disorders is considered a rare disease mechanism with important consequences for diagnosis and patient counseling.
Mohammad Jakir Hosen, Paul J Coucke, Bart Leroy   +2 more
exaly   +5 more sources

Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients [PDF]

Diagnostics, 2022
Background: Hemophilia A (HA) and B (HB) are X-linked recessive disorders that mainly affect males born from a mother carrier. Females are rarely affected but a number of mechanisms have been suggested in symptomatic females, such as skewed X-chromosome ...
Ming-Ching Shen, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Chen, Gwo-Chin Ma   +5 more
doaj   +3 more sources

Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita [PDF]

Frontiers in Genetics
BackgroundDyskeratosis congenita (DC; OMIM: 127550) is a rare inherited bone marrow failure syndrome. TINF2 mutations are the second most common genetic cause of DC, and most cases arise from de novo mutations.
Tao Xie, Tao Xie, Hanying Nong, Hanying Nong, Jiali Jiang, Mengxin Yang, Jialiang Liao, Zhihao Lin, Yuping Li, Bobo Xie, Hongying Wei, Hongying Wei   +11 more
doaj   +3 more sources

Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants [PDF]

Molecular Genetics and Metabolism Reports, 2022
Background: GNAO1 encodes an alpha subunit of the heterotrimeric guanine nucleotide-binding proteins (G proteins). Mutations in GNAO1 result in two clinical phenotypes: Early infantile epileptic encephalopathy 17 (EEIE17-OMIM #615473) and ...
Zainab Al Masseri, Moeenaldeen AlSayed
doaj   +2 more sources

Two sisters with cardiac‐urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism? [PDF]

Molecular Genetics & Genomic Medicine, 2023
Background Cardiac‐urogenital syndrome [MIM # 618280] is a newly described very rare syndrome associated with pathogenic variants in the myelin regulatory factor (MYRF) gene that leads to loss of protein function.
Katerina Slaba, Marta Jezova, Petra Pokorna, Hana Palova, Jana Tuckova, Jan Papez, Dagmar Prochazkova, Petr Jabandziev, Ondrej Slaby   +8 more
doaj   +2 more sources

Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome [PDF]

Frontiers in Immunology
Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their ...
Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L. Lewis, Joie Davis, Leila Jamal, Colleen Jodarski, Morgan Similuk, Nermina Saucier, Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, NIAID Centralized Sequencing Program Working Group, Helen C. Su, Gulbu Uzel, Shareef Nahas, Megan Cooper, Magdalena A. Walkiewicz, Bryce A. Seifert, Nadjalisse Reynolds-Lallement, Rachel Gore Moses, Michael Gore Moses, Sarah Bannon, Sophie Byers, Ekaterina Damskey, Sruthi Srinivasan, Adrienne Borges, Nicole Gentile   +31 more
doaj   +2 more sources

Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China [PDF]

The Application of Clinical Genetics
Lulu Meng,1,* Yan Wang,1,* Junqiang Zhang,2,* Ran Zhou,1 Xingxing Wang,3 Fengchang Qiao,1 Qinxin Zhang,1 Cheng Wan,3 Shujing Jiao,3 Ping Hu,1 Zhengfeng Xu11Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical ...
Meng L, Wang Y, Zhang J, Zhou R, Wang X, Qiao F, Zhang Q, Wan C, Jiao S, Hu P, Xu Z   +10 more
doaj   +2 more sources

Long-term outcomes in 45,X/46,XY mosaicism: a 30-year retrospective study in Hong Kong [PDF]

Annals of Pediatric Endocrinology & Metabolism
Purpose 45,X/46,XY mosaicism is a rare subset of sex chromosome abnormalities within the spectrum of differences of sex development. This study aimed to evaluate the long-term outcomes in a group of individuals with 45,X/46,XY mosaicism over a 30-year ...
Sarah Wing Yiu Poon, Sharon Wing Yan To, Lisa Lai Ping Siu, Shirley Sze Wing Cheng, Stephanie K.L. Ho, Gloria Shir Wey Pang, Pauline Po Lam So, Joanna Yuet Ling Tung, Ho-Ming Luk   +8 more
doaj   +2 more sources

Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements. [PDF]

Mol Cytogenet, 2016
Mosaicism for chromosomal structural rearrangements (Rea) is rare and the timing and mechanisms of mosaic Rea formation, maintenance, and clinical manifestation are poorly understood. To date, there are no published data on the cytogenetic profile of mosaic Reas.
Kovaleva NV, Cotter PD.
europepmc   +4 more sources

Case Report: Mixed gonadal dysgenesis with Müllerian remnants mimicking a prostatic utricle in a child with 45,X/46,XY/47,XYY mosaicism [PDF]

Frontiers in Pediatrics
BackgroundSex-chromosome mosaicism can cause discordant gonadal, ductal, and external genital development. Persistent Müllerian derivatives are classically associated with defects in anti-Müllerian hormone (AMH) production or AMH receptor type 2 (AMHR2 ...
Shuai Zhang, Chenying Zhou, Dianyong Liu
doaj   +2 more sources