نتایج جستجو برای: chromosome duplication

تعداد نتایج: 136802  

2009
Jin Nakatani Kota Tamada Fumiyuki Hatanaka Satoko Ise Hisashi Ohta Kiyoshi Inoue Shozo Tomonaga Yasuhito Watanabe Yeun Jun Chung Ruby Banerjee Kazuya Iwamoto Tadafumi Kato Makoto Okazawa Kenta Yamauchi Koichi Tanda Keizo Takao Tsuyoshi Miyakawa Allan Bradley Toru Takumi

Substantial evidence suggests that chromosomal abnormalities contribute to the risk of autism. The duplication of human chromosome 15q11-13 is known to be the most frequent cytogenetic abnormality in autism. We have modeled this genetic change in mice by using chromosome engineering to generate a 6.3 Mb duplication of the conserved linkage group on mouse chromosome 7. Mice with a paternal dupli...

Journal: :international journal of fertility and sterility 0

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Journal: :Crop Breeding and Applied Biotechnology 2014

Fan W, Li L Wang P Yin Ch

Background: Aberrant chromosomes can cause azoospermia but little is known about its molecular mechanism. Our aim is to explore any possible genetic defective to explain a given male infertility. Materials and Methods: An azoopsermic male was identified in a 23 years old male. G-banding and FISH confirmed the karyotype as chromosome insertion (18:7) (q22.1; q36.2q21.11). NGS was performed to an...

2017
Rossella Cannarella Teresa Mattina Rosita A Condorelli Laura M Mongioì Giuseppe Pandini Sandro La Vignera Aldo E Calogero

Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with chromosome 15 structural abnormalities. We report two male patients with the smallest 15q26.3 chromosome duplication described so far, and a fe...

Journal: :Genetics 1990
K S McKim A M Rose

We have isolated and characterized 76 duplications of chromosome I in the genome of Caenorhabditis elegans. The region studied is the 20 map unit left half of the chromosome. Sixty-two duplications were induced with gamma radiation and 14 arose spontaneously. The latter class was apparently the result of spontaneous breaks within the parental duplication. The majority of duplications behave as ...

Journal: :Journal of medical genetics 1998
D de Silva D Massie J Drummond D Couzin J C Dean

The clinical features and cytogenetic results of an 18 year old mentally handicapped female found to be a mosaic for a tandem duplication of chromosome 1 (46,XX,dup(1)(q12q22)/46,XX) are reported. The case is compared with the three previously described cases and possible mechanisms for the origin of the duplication are discussed. This patient was not found to have features of Proteus syndrome ...

Journal: :Journal of medical genetics 1998
J C Barber C A Joyce M N Collinson J C Nicholson L R Willatt H M Dyson M S Bateman A J Green J R Yates N R Dennis

We present seven families with a cytogenetic duplication of the short arm of chromosome 8 at band 8p23.1. The duplication has been transmitted from parents to offspring in four of the seven families. In three families, the source of the extra material and its euchromatic origin were established using FISH with a YAC which was mapped to 8p23.1 and a whole chromosome paint for chromosome 8. FISH ...

2012
Shalinder Singh Fern Ashton Renate Marquis-Nicholson Jennifer M. Love Chuan-Ching Lan Salim Aftimos Alice M. George Donald R. Love

Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4. Chromosomal analysis revealed the karyotype 46,XX,der(19)ins(19;9)(q13.4;q34.3q34.3)pat. Cytogenetic microarray analysis (CMA) identified a ~2.3Mb duplication of...

2017
Renata Nacinovich Nicoletta Villa Fiorenza Broggi Cristina Tavaniello Monica Bomba Donatella Conconi Serena Redaelli Elena Sala Marialuisa Lavitrano Francesca Neri

Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients' quality of life. We report a 10-year neuropsychiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromo...

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