نتایج جستجو برای: chromosome 14

تعداد نتایج: 471848  

Journal: :Chang Gung medical journal 2004
Jia-Woei Hou

Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14. His ka...

2014
Ariane Sadr-Nabavi Morteza Saeidi

The rearrangement of chromosome 14 is a rare cytogenetic finding. Changes in the number or structure of chromosome 14 can have a variety of effects, such as delayed growth and development, and distinctive facial features. The human chromosome 14 plays an important role in imprinting events importunes of a structural rearrangement is specifically when a phenotype is caused by imprinting, whereby...

Journal: :journal of sciences islamic republic of iran 0

the tribe sophoreae sensu polhill [9,10] is a large and diverse assemblage comprising the ancient and primitive ancestral stocks of papilionoideae. the most frequent chromosome basic numbers in this tribe are x = 11 and x = 9 but chromosome numbers range from x = 8-14 are also known. in this study chromosome numbers and karyotype variation of iranian members of tribe sophoreae are reported. ira...

Journal: :Nucleic acids research 1982
O W McBride J Battey G F Hollis D C Swan U Siebenlist P Leder

Analysis of a group of human/rodent somatic cell hybrids with nucleic acid probes prepared from cloned human variable region (VH), junctional (JH), and constant region (C epsilon) heavy chain immunoglobulin genes indicates that all of these IgH genes are localized on the subtelomeric (q32) band of chromosome 14. Somatic cell hybrids were isolated in selective medium after fusing human fibroblas...

Journal: :Egyptian Journal of Medical Human Genetics 2021

Abstract Background The presence of small supernumerary marker chromosomes (sSMCs) in a karyotype leads to diagnostic questions because the resulting extra material may cause abnormal development depending on origin duplication/triplication. Because SMCs are so small, their cannot be determined by conventional cytogenetic techniques, and new molecular methods necessary. Here, we applied target ...

Journal: :International Journal of Biological Sciences 2008
Tito A. Wibowo Charles T. Gaskins Ruth C. Newberry Gary H. Thorgaard Jennifer J. Michal Zhihua Jiang

Bovine chromosome 14 (BTA14) has been widely explored for quantitative trait loci (QTL) and genes related to economically important traits in both dairy and beef cattle. We reviewed more than 40 investigations and anchored 126 QTL to the current genome assembly (Btau 4_0). Using this anchored QTL map, we observed that, in dairy cattle, the region spanning 0 - 10 Mb on BTA14 has the highest dens...

Journal: :Blood 1986
N Clare D Boldt G Messerschmidt P Zeltzer K Hansen L Manhoff

Five patients with lymphocytic malignancies were found to have structural aberrations of chromosome 14, all involving band q11. The malignant cells of all five cases were analyzed by immunofluorescence to establish immunologic phenotypes. Three patients had T lymphoblastic lymphoma/leukemia with mediastinal masses (cases 1, 2, and 3); one patient had peripheral T cell lymphoma (case 4); and one...

Journal: :Human mutation 2003
S K Murphy A A Wylie K J Coveler P D Cotter P R Papenhausen V R Sutton L G Shaffer R L Jirtle

The recent demonstration of genomic imprinting of DLK1 and MEG3 on human chromosome 14q32 indicates that these genes might contribute to the discordant phenotypes associated with uniparental disomy (UPD) of chromosome 14. Regulation of imprinted expression of DLK1 and MEG3 involves a differentially methylated region (DMR) that encompasses the MEG3 promoter. We exploited the normal differential ...

2013
Massoumeh Tajeran Fatemeh Baghbani Mohammad Hassanzadeh-Nazarabadi

BACKGROUND Autism is a complex neuropsychiatric disorder that manifests in early childhood. Although the etiology is unknown yet but, new hypothesis focused on identifying the key genes related to autism may elucidate its etiology. The main objective of the present study was to verify the value of karyotyping in autistic children and identifying association between chromosome abnormalities and ...

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