Results 41 to 50 of about 483,817 (151)

Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

Molecular Cytogenetics, 2009
Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15.
Liu Dahai, Dorrani Naghmeh, Driscoll Jennette, Wang Nicholas J, Wu David J, Sigman Marian, Schanen N Carolyn   +6 more
doaj   +1 more source

Interstitial duplication of 20q11.22q13.11: A case report and review of literature

Molecular Genetics & Genomic Medicine, 2021
Background Reports of interstitial duplication of chromosome 20q11 are rare with only nine published patients to date. Methods We performed karyotype and chromosomal microarray analysis on a peripheral blood sample for our patient and reviewed the genes ...
Logan Goetzinger, Rachel D. Starks, Kyle Dillahunt, Heather Major, Jaime M. Nagy, Alpa Sidhu   +5 more
doaj   +1 more source

The mode of chromosome duplication during meiosis and mitosis in Haplopappus gracilis [PDF]

, 1965
The mode of chromosome duplication during meiosis and mitosis in Haplopappus gracilis was investigated. Tritiated thymidine was incorporated into the pollen mother cells during premeiotic interphase, and the cells were allowed to reach the tetrad stage.
Marimuthu, Kodumudi
core   +1 more source

Genotype-phenotype correlation of deletions and duplications of 4p: case reports and literature review

Frontiers in Genetics, 2023
Structural rearrangements of chromosome 4p gives rise to a group of rare genomic disorders that mainly result in two different clinical entities: Wolf-Hirschhorn syndrome (WHS) and partial 4p trisomy.
Xuan Zhang, Hongjuan Lu, Hanran Yang, Yichen Ji, Huixin Liu, Wenjian Liu, Jiayi Li, Zhixian Yang, Wei Sun   +8 more
doaj   +1 more source

Whole-genome sequencing reveals complex structural variations at a major locus linked to pigmented spot sizes in Tianfu goats

BMC Genomics
Background Coat color is one of the most easily recognizable appearance traits used to discriminate livestock breeds and individuals. This study investigated the genetic loci and candidate genes affecting pigmented spots in Tianfu (TF) goats. Results The
Jiazhong Guo, Qingsi Huang, Qiunan Xiang, Guo Wu, Peipei Bian, Xihong Wang, Li Li, George E. Liu, Hongping Zhang   +8 more
doaj   +1 more source

Inv dup del(10p): Prenatal diagnosis and molecular cytogenetic characterization

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present molecular cytogenetic characterization of prenatally detected inverted duplication and deletion of 10p [inv dup del(10p)]. Case report: A 39-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of ...
Chih-Ping Chen, Tsang-Ming Ko, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Li -Feng Chen, Wayseen Wang   +8 more
doaj   +1 more source

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Molecular Cytogenetics, 2008
We report a patient with a unique and complex cytogenetic abnormality involving mosaicism for a small ring X and deleted Xp derivative chromosome with tandem duplication at the break point. The patient presented with failure to thrive, muscular hypotonia,
Fang Ping, Brown Chester W, Yatsenko Svetlana A, Peacock Sandra, Ou Zhishuo, Cooper M Lance, Shchelochkov Oleg A, Stankiewicz Pawel, Cheung Sau   +8 more
doaj   +1 more source

Graphic illustration of data for individual chromosome with different chromosome copy number a) monosomy 21, b) disomy 6, c) trisomy 16, d) partitial duplication chromosome 7.

, 2013
Graphic illustration of data for individual chromosome with different chromosome copy number a) monosomy 21, b) disomy 6, c) trisomy 16, d) partitial duplication chromosome 7.
Zachary P. Demko (330506), David Johnson (22347), Styrmir Sigurjonsson (330508), George Gemelos (330510), Matthew Rabinowitz (330512), Jamie A. M. Massie (330504), Ruth B. Lathi (330500), Megan Loring (330502)   +7 more
core   +1 more source

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

Frontiers in Pediatrics, 2020
Duplications of chromosome 8p lead to rare genetic conditions characterized by variable phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only 8p23 duplication was associated with heart defects.
Cristina Gug, Dorina Stoicanescu, Ioana Mozos, Ioana Mozos, Laura Nussbaum, Mariana Cevei, Danae Stambouli, Anca Gabriela Pavel, Gabriela Doros   +8 more
doaj   +1 more source

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

BMC Pregnancy and Childbirth, 2021
Background We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis.
Jinman Zhang, Xinhua Tang, Jilin Hu, Guilin He, Jian Wang, Yingting Zhu, Baosheng Zhu   +6 more
doaj   +1 more source