Results 81 to 90 of about 108,883 (296)

Acquired duplication of isochromosome 21's resulting in pentasomy 21 with concurrent 13q deletion in acute lymphoblastic leukemia: a rare co-occurrence

Journal of Biochemical and Clinical Genetics
Background Pentasomy involving duplication of isochromosome 21;der(21;21)(q10;q10) is a rare cytogenetic abnormality linked primarily to acute lymphoblastic leukemia (ALL) and less frequently to acute myeloid leukemia (AML) or myelodysplastic syndromes ...
Suhaib Mohammad Ali Abunaser, Anurita Pais, Cigdem Pala Ozturk   +2 more
doaj   +1 more source

Genetic and morphology analysis among the pentaploid F1 hybrid fishes (Schizothorax wangchiachii ♀ × Percocypris pingi ♂) and their parents

Animal, 2019
Triploid and pentaploid breeding is of great importance in agricultural production, but it is not always easy to obtain double ploidy parents. However, in fishes, chromosome ploidy is diversiform, which may provide natural parental resources for triploid
H.R. Gu, Y.F. Wan, Y. Yang, Q. Ao, W.L. Cheng, S.H. Deng, D.Y. Pu, X.F. He, L. Jin, Z.J. Wang   +9 more
doaj   +1 more source

Karyotype idiogram of ginseng

, 2012
Metaphase spread and the karyotype idiogram of P ...
Ryu, Kwang Bok, Hyun Hee Kim (456274), Joo Hyung Kim (3258510), Kim, Joo Hyung, Yang, Tae Jin, Nomar Waminal (3258513), Tae Jin Yang (3258507), Hye Mi Park (690394), Kwang Bok Ryu (3258516), Waminal, Nomar, Kim, Hyun Hee, Park, Hye Mi   +11 more
core   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Clinical Utility of Multiplex Ligation-Dependent Probe Amplification in the Genetic Assessment of Patients with Myelodysplastic Syndrome

Biomedicines
Background/Objectives: Genetic abnormalities are critical for the diagnosis, prognosis, and therapeutic management of myelodysplastic syndromes (MDS). This study aims to evaluate the clinical utility of Multiplex Ligation-dependent Probe Amplification ...
Radostina Valeva, Maria Levkova, Dinnar Yahya, Mari Hachmeriyan, Ilina Micheva   +4 more
doaj   +1 more source

Convergent patterns of karyotype evolution underlying karyotype uniformity in conifers

Karyotype diversity plays an important role in speciation and diversification. However, gymnosperms, particularly conifers, exhibit remarkable karyotype uniformity.
Zhao, Wei, Zhang, Ren-Gang,, Wang, Xiao-Quan,, Zhao, Wei,, Liu, De-Tuan,, Jia, Kai-Hua,, Liu, De-Tuan, Yang, Hao, Zhang, Ren-Gang, Ma, Yongpeng,, Wang, Xiao-Quan, Ma, Yongpeng, Sun, Wei-Bang, Shu, Heng, Yang, Hao,, Shang, Hong-Yun, Liu, Hui, Shu, Heng,, Liu, Hui,, Jia, Kai-Hua, Sun, Wei-Bang,, Shang, Hong-Yun,   +21 more
core   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Deciduous teeth eruption in full and mosaic type of Down’s Syndrome patient

Dental Journal, 2005
The purpose of this study was to examined the correlation of deciduous teeth eruption with the karyotipe of) Down’s Syndrome patient. Full and Mosaic karyotype in Down’s Syndrome (DS) patients have different prognostics.
Willyanti Sjarif
doaj   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

A karyomorphological study on Actaea acuminata, A. asiatica, and A. erythrocarpa (Ranunculaceae)

Acta Biologica Sibirica
A comparative karyomorphological analysis was performed on Actaea acuminata, A. asiatica, and A. erythrocarpa. The karyotype of A. acuminata was re-examind; its formula proved to be 2n = 16 = 10m + 2sm + 2st + 2t.
Elizaveta Yu. Mitrenina, Andrey S. Erst, Denis A. Krivenko, Tatiana N. Veklich, Tatiana V. Leonova, Olga A. Chernyagina, Valentin V. Yakubov, Kunli Xiang, Yuan-Yuan Ling, Wei Wang   +9 more
doaj   +1 more source