Results 71 to 80 of about 9,097 (228)

The trisomy 18 syndrome [PDF]

, 2012
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q.
Anna Cereda, John C Carey
core   +1 more source

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present prenatal diagnosis of mosaic trisomy 21 at amniocentesis associated with unbalanced Robertsonian translocation in the fetus and a favorable fetal outcome.
Chih-Ping Chen, Yi-Yung Chen, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Wayseen Wang   +5 more
doaj   +1 more source

Prenatal diagnosis of mosaic trisomy 8: Clinical report and literature review

Taiwanese Journal of Obstetrics & Gynecology, 2011
Objective: To present prenatal diagnosis of mosaic trisomy 8 and to review the literature. Materials, Methods, and Results: A 34-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age.
Chih-Ping Chen, Ming Chen, Yi-Ju Pan, Yi-Ning Su, Schu-Rern Chern, Fuu-Jen Tsai, Yu-Ting Chen, Wayseen Wang   +7 more
doaj   +1 more source

What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study

Journal of Intellectual Disability Research, Volume 70, Issue 4, Page 403-416, April 2026.
ABSTRACT Background Improving care and research for individuals with genetic intellectual disabilities (GID) requires the identification and measurement of relevant patient reported outcomes (PROs). PROs represent the patient perspective on their health status.
Nadia Y. van Silfhout, Maud M. van Muilekom, Leonie A. Menke, Clara D. van Karnebeek, Lotte Haverman, Agnies M. van Eeghen   +5 more
wiley   +1 more source

Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic double trisomy involving trisomy 7 and trisomy 20 (48,XY,+7,+20) at amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present mosaic double trisomy involving trisomy 7 and trisomy 20 at amniocentesis in a pregnancy with a favorable outcome. Case report: A 41-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Meng-Shan Lee, Yun-Yi Chen, Wayseen Wang   +8 more
doaj   +1 more source

Chromosomal disorders and male infertility [PDF]

, 2011
Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered.
Harton, Gary L., Tempest, Helen G., Ph.D.   +1 more
core   +1 more source

Jacob's Syndrome and Hearing Loss: A Case Study

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Bilateral mild‐to‐moderate hearing loss identified in a child with Jacob’s syndrome (47,XYY). This case highlights the importance of early audiological assessment in children with chromosomal abnormalities to facilitate timely intervention and optimize developmental outcomes.
Houra Bagheri, Ali Kouhi, Mojtaba Alidoust, Amineh Koravand   +3 more
wiley   +1 more source

Uniparental Disomy and Genome Imprinting: an Overview [PDF]

, 2017
The following paper is concerned with potential changes in the normal epigenetic process in a diploid individual, when a chromosome pair or segment is inherited from one parent only, instead of the expected biparental contribution.
Engel, E.
core  

Clinical identification of feeding and swallowing disorders in 0-6 month old infants with Down syndrome [PDF]

, 2019
Feeding and swallowing disorders have been described in children with a variety of neurodevelopmental disabilities, including Down syndrome (DS). Abnormal feeding and swallowing can be associated with serious sequelae such as failure to thrive and ...
Bull, Marilyn J., Davis, Charlene, Duvall, Nichole, Givan, Deborah C., Jalou, Hasnaa E., Jenkinson, Sandra B., Roper, Randall J., Shepherd, Nicole, Stanley, Maria A., Steele, Gregory H., Watkins, Donna U.   +10 more
core   +1 more source