scholarly journals Pre‐ and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature

2020 ◽  
Vol 182 (11) ◽  
pp. 2680-2684
Author(s):  
Wisam Habhab ◽  
Ulrike Mau‐Holzmann ◽  
Sylke Singer ◽  
Angelika Rieß ◽  
Karl‐Oliver Kagan ◽  
...  
2017 ◽  
Vol 1 (1) ◽  
pp. 5-11
Author(s):  
Maryam Sotoudeh Anvari ◽  
Behrang Taghvaei ◽  
Mohammad Vasei

Pericentric inversions in chromosome 10 are regarded as both common and rare conditions, based on breakage and rearrangement within each specific segment. We present phenotypic and cytogenetic characterizations of a rare recombinant chromosome 10, namely inv(10)(p11q26), in a 13-month-old flabby girl associated with a maternal pericentric inversion. A review of the literature on the different aspects of this condition is also provided.


2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Francesca Malvestiti ◽  
Francesco Benedicenti ◽  
Simona De Toffol ◽  
Sara Chinetti ◽  
Adelheid Höller ◽  
...  

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 recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.


1994 ◽  
Vol 50 (4) ◽  
pp. 323-325 ◽  
Author(s):  
Hiroshi Ayukawa ◽  
Masato Tsukahara ◽  
Masamichi Fukuda ◽  
Osamu Kondoh

2010 ◽  
Vol 30 (1) ◽  
pp. 89-92 ◽  
Author(s):  
Se Jin Mun ◽  
Eun Hae Cho ◽  
Myoung-Jae Chey ◽  
Gyu-Hong Shim ◽  
Bo-Moon Shin ◽  
...  

2006 ◽  
Vol 166 (1) ◽  
pp. 67-71 ◽  
Author(s):  
Agnieszka Stembalska ◽  
Izabela Laczmanska ◽  
Kamila Schlade-Bartusiak ◽  
Halina Czemarmazowicz ◽  
Marek Murawski ◽  
...  

2015 ◽  
Vol 8 (1) ◽  
Author(s):  
Hande Küçük Kurtulgan ◽  
Leyla Özer ◽  
Malik Ejder Yıldırım ◽  
Evrim Ünsal ◽  
Süleyman Aktuna ◽  
...  

2008 ◽  
Vol 49 (2) ◽  
pp. 205-207 ◽  
Author(s):  
Vytautas Šliužas ◽  
Algirdas Utkus ◽  
Vaidutis Kučinskas

1991 ◽  
Vol 28 (2) ◽  
pp. 126-127 ◽  
Author(s):  
A Delicado ◽  
E Escribano ◽  
I Lopez Pajares ◽  
A Diaz de Bustamante ◽  
S Carrasco

1978 ◽  
Vol 45 (2) ◽  
pp. 115-122 ◽  
Author(s):  
Jovanka Nikoliš ◽  
Emilija Stolević

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