Results 31 to 40 of about 483,817 (151)

47,XYY,dup(13q12.11),t(4;9)(q21.1;q22.3),r(21)(p12q22.3) with azoospermia and low intelligence

Reproductive and Developmental Medicine, 2019
A 27-year-old patient with azoospermia and low intelligence was reported having a rare karyotype 47,XYY,dup(13q12.11),t(4;9)(q21.1;q22.3),r(21)(p12q22.3).
Chao Lou, Han-Zhi Wu, Cui-Yun Qin, Shu-Wen Xin, Qiu-Hua Wu, Hong-Min Yan, Rong Qiang   +6 more
doaj   +1 more source

Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features

Case Reports in Genetics, 2019
Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities. Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth ...
Jacquelyn D. Riley, Catherine M. Stefaniuk, Francine Erenberg, Angelika L. Erwin, Lauren Palange, Caroline Astbury   +5 more
doaj   +1 more source

Mechanisms of gene duplication and translocation and progress towards understanding their relative contributions to animal genome evolution [PDF]

, 2012
Duplication of genetic material is clearly a major route to genetic change, with consequences for both evolution and disease. A variety of forms and mechanisms of duplication are recognised, operating across the scales of a few base pairs upto entire ...
Mendivil Ramos, Olivia, Ferrier, David Ellard Keith, Ferrier, David Ellard Keith; id_orcid   +2 more
core   +1 more source

Ring chromosome 9 with a 9p22.3-p24.3 duplication

, 1999
A ring chromosome 9 containing an inverted 9p22.3-p24.3 duplication was found in a girl presenting with some of the phenotypic characteristics of ring 9 syndrome such as trigonocephaly, microcephaly, hypotelorism, micrognathia, single palmar crease, and ...
L. SEGHEZZI, A. MARCHI, TUPLER, Rossella, M. BOZZOLA, E. MASERATI, L. TIEPOLO, P. MARASCHIO   +6 more
core   +2 more sources

Whole-chromosome arm acquired uniparental disomy in cancer development is a consequence of isochromosome formation

Neoplasia: An International Journal for Oncology Research, 2022
Using SNP-based microarray data from The Cancer Genome Atlas (TCGA), we investigated isochromosomes (deletion of one arm and duplication of the other arm) and related acquired uniparental disomy in 12 tumor types.
Musaffe Tuna, Christopher I. Amos, Gordon B. Mills   +2 more
doaj   +1 more source

Chromosome duplication is correlated to cell length.

, 2012
(A) Distribution of chromosome number per cell is not significantly different from a log-normal distribution (n = 681, χ2 goodness of fit test, h = 0, p = 0.2621). Most cells contain 4 chromosomes with values ranging from 1 to 10.
Anna H. Chen (132575), Pamela A. Silver (132583), David F. Savage (132587), Bruno Afonso (132579)   +3 more
core   +1 more source

Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism [PDF]

, 2009
SummarySubstantial 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.
Ise, Satoko, Banerjee, Ruby, Inoue, Kiyoshi, Tanda, Koichi, Okazawa, Makoto, Bradley, Allan, Iwamoto, Kazuya, Ohta, Hisashi, Watanabe, Yasuhito, Tomonaga, Shozo, Tamada, Kota, Chung, Yeun Jun, Takao, Keizo, Miyakawa, Tsuyoshi, Nakatani, Jin, Kato, Tadafumi, Hatanaka, Fumiyuki, Takumi, Toru, Yamauchi, Kenta   +18 more
core   +1 more source

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Case Reports in Genetics, 2013
Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a ...
Francesca Malvestiti, Francesco Benedicenti, Simona De Toffol, Sara Chinetti, Adelheid Höller, Beatrice Grimi, Gertrud Fichtel, Monica Braghetto, Cristina Agrati, Eleonora Bonaparte, Federico Maggi, Giuseppe Simoni, Francesca Romana Grati   +12 more
doaj   +1 more source

Supplementary Material for: Large chromosome 2p duplication-associated mechanisms and clinical presentations

, 2023
Chromosome 2p (chr2p) duplication, also known as trisomy 2p, is a rare chromosome abnormality associated with developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most of the reported cases involving trisomy
Clarkson K. (16683528), Everman D.B. (16683546), DuPont B. (16683549), Childers A. (16683537), Fang X. (4854886), Rogers R.C. (16683531), Hilton B. (16683525), Schroer R. (16683534), Patterson W.G. (16683540), Davis J.M. (16683543)   +9 more
core   +1 more source

Y-chromosome loci duplication: Italian study

, 2006
Y-chromosome loci duplication: Italian ...
TURRINA, Stefania, Filippini G., Atzei R., DE LEO, Domenico   +3 more
core   +1 more source