Zobrazeno 1 - 10
of 664
pro vyhledávání: '"Chromosome 2"'
Publikováno v:
Global Medical Genetics, Vol 11, Iss 01, Pp 100-112 (2024)
We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR, and a variant of uncertain significance in ZNF142. Biallelic path
Externí odkaz:
https://doaj.org/article/4eb643cea5714bf28179c8a5c6d6c2be
Publikováno v:
Clinical Case Reports, Vol 11, Iss 11, Pp n/a-n/a (2023)
Abstract This case report presents a 3‐year‐old female child diagnosed with 2q37 deletion syndrome and patent foramen ovale, and the improvement in hypotonia and gross motor delay after 1 year of physical therapy. This case highlights the importa
Externí odkaz:
https://doaj.org/article/d2a1bd91351d490c818b214dd04bac13
Autor:
Stankiewicz, Paweł1 pawels@bcm.edu
Publikováno v:
Molecular Cytogenetics (17558166). 9/26/2016, Vol. 9, p1-5. 5p.
Publikováno v:
BMC Genomics, Vol 23, Iss S6, Pp 1-16 (2022)
Abstract Background The reduction of the chromosome number from 48 in the Great Apes to 46 in modern humans is thought to result from the end-to-end fusion of two ancestral non-human primate chromosomes forming the human chromosome 2 (HSA2). Genomic
Externí odkaz:
https://doaj.org/article/1940433a3fcf49dfba467160f401a600
Publikováno v:
Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 79-86 (2021)
We report a prenatally diagnosed case of partial trisomy 2p and partial monosomy 3p, resulting from unbalanced translocation (2;3)(p25.1;p25.3) of paternal origin. Parents were non consanguineous Caucasians, with familial history of recurrent miscarr
Externí odkaz:
https://doaj.org/article/1b0e0be2ff1446059b9005710a76a33f
Autor:
Chih-Ping Chen, Chen-Ju Lin, Shin-Wen Chen, Fang-Tzu Wu, Schu-Rern Chern, Peih-Shan Wu, Yun-Yi Chen, Wen-Lin Chen, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 59, Iss 6, Pp 941-944 (2020)
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia. Case report: A 27-year-old
Externí odkaz:
https://doaj.org/article/15d03ef01c1744dc8de250136ba79388
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Infantile hypotonia with psychomotor retardation and characteristic facies 2 (IHPRF2) is a rare autosomal recessive neurodevelopmental disorder caused by mutations in the UNC80 gene. It is characterized by severe global developmental dela
Externí odkaz:
https://doaj.org/article/ae7e9a1e177a46ffaf2b6af827df435e
Publikováno v:
Clinical Case Reports, Vol 9, Iss 6, Pp n/a-n/a (2021)
Abstract We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome
Externí odkaz:
https://doaj.org/article/6d9ed4e0cb6b4ab9a3953d3515549dae
Autor:
Qinrui Yang, Baonian Liu, Chengchen Shao, Yuxiang Zhou, Yining Yao, Yuyin Pan, Kuan Sun, Hongmei Xu, Chengtao Li, Ting Wei, Yueqin Zhou, Qiqun Tang, Jianhui Xie
Publikováno v:
BMC Genetics, Vol 20, Iss 1, Pp 1-9 (2019)
Abstract Background An STR locus with tri-allelic pattern is occasionally observed in routine forensic casework. The extra copy of TPOX locus with tri-allelic pattern in populations has been assumed to be inserted into an X chromosome, which took pla
Externí odkaz:
https://doaj.org/article/02155ff688b94a3b94ef228fd92b4662
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