Results 1 to 10 of about 453,665 (301)

Chromosome 11q13 deletion syndrome [PDF]

Korean Journal of Pediatrics, 2016
Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular ...
Yu-Seon Kim, Gun-Ha Kim, Jung Hye Byeon, So-Hee Eun, Baik-Lin Eun   +4 more
doaj   +3 more sources

Chromosome 1p31.1 deletion syndrome: Limited expression

Annals of Indian Academy of Neurology, 2021
Chromosomal microdeletion syndromes usually present with neurological abnormalities, developmental delays, and various systemic abnormalities.
Seba Biswal, Preetinanda Parida, Aranya Dubbudu, Indar Kumar Sharawat, Prateek Kumar Panda   +4 more
doaj   +3 more sources

Terminal Deletion of Chromosome 6q

Pediatrics and Neonatology, 2008
Terminal deletions of chromosome 6q are rare. Clinical features associated with 6q terminal deletion syndrome include psychomotor retardation, seizures, hypotonia, short neck, and facial abnormalities, as well as various case-specific anomalies. Here, we
Pen-Hua Su, Jia-Yuh Chen, Suh-Jen Chen, Kai-Chi Yang   +3 more
doaj   +3 more sources

Novel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling [PDF]

Case Reports in Genetics
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin-1 (FBN1) gene on Chromosome 15q21.1.
Breanna Beers, Hamilton Wexler, Gretchen MacCarrick   +2 more
doaj   +2 more sources

Detection of Chromosome 13q14 Deletion, Chromosome 11q22 Deletion and Trisomy 12 in Chronic Lymphocytic Leukemia Patients

The Iraqi Journal of Medical Sciences, 2021
Background: Chronic lymphocytic leukemia (CLL) is a malignancy of mature B cells. The genetic factors have been found to play a role in the pathogenesis of the disease.
Hiba H. Hashim, Subeh S. Abdulateef
doaj   +7 more sources

Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs [PDF]

, 2018
Four full-sibling intact male Miniature Poodles were evaluated at 4–19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated
A Aartsma-Rus, A McKenna, Alberta de Stefani, Anita Shea, AP Monaco, AV Winnard, BA Valentine, BF Smith, BJ Cooper, C Le Guiner, C Pichavant, CA Collins, CA Jenkins, CA Wetterman, Carlos E. Ambrósio, CT Caskey, DE Cole, DJ VanBelzen, Elsa Beltrán, EM Hoogerwaard, EM Hoogerwaard, EP Hoffman, F Daoud, G Anil, G Bulfield, G. Diane Shelton, GD Shelton, GD Shelton, GD Shelton, GD Shelton, GL Walmsley, H Li, JA Goldstein, JL Carpenter, JN Kornegay, JN Kornegay, JR Mendell, JW McGreevy, K Bushby, K Nakamura, KJ Livak, KJ Nowak, Ling T. Guo, Lluís Sánchez, Louise M. Burmeister, LT Guo, Luisa De Risio, M Koenig, N Klymiuk, N Winand, NJ Olby, NJ Sharp, PP Nghiem, S Atencia-Fernandez, S Pouwels, S Rozen, SJ Schatzberg, SJ Schatzberg, T Larcher, U Francke, V Dubowitz, V Ricotti, W El Nemer, WI Baltzer   +63 more
core   +14 more sources

Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review

BMC Medical Genomics, 2023
Background Xq22.1–q22.3 deletion is a rare chromosome aberration. The purpose of this study was to identify the correlation between the phenotype and genotype of chromosome Xq22.1–q22.3 deletions.
Hui-Hui Xu, Yang Zhang, Zhe-Hang He, Xing-Hong Di, Fei-Yan Pan, Wei-Wu Shi   +5 more
doaj   +1 more source

Cervical Spine Malformations Associated With a 5q34-5q35.2 Micro-interstitial Deletion: A Case Report [PDF]

Annals of Rehabilitation Medicine, 2018
We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. The patient presented with a persistent head tilt and limited head rotation.
Heewon Lee, Joon Sung Kim, Seong Hoon Lim, Bomi Sul, Bo Young Hong   +4 more
doaj   +1 more source

Birth seasonality studies in a large Prader-Willi syndrome cohort. [PDF]

, 2019
Prader-Willi syndrome (PWS) is generally due to sporadic paternal deletions of the chromosome 15q11-q13 region followed by maternal disomy 15. Advanced maternal age is more commonly seen in those with maternal disomy 15. Environmental factors (e.g., drug
Butler, Merlin G, Driscoll, Daniel J, Dykens, Elisabeth, Gold, June Anne, Kimonis, Virginia, Miller, Jennifer L, Tamura, Roy   +6 more
core   +1 more source

Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report

BMC Medical Genomics, 2022
Background The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.
Jincheng Dai, Jun Zeng, Hongxi Tan, Xiangsheng Cai, Benqing Wu   +4 more
doaj   +1 more source