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

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Francesca Malvestiti ◽  
Francesco Benedicenti ◽  
Simona De Toffol ◽  
Sara Chinetti ◽  
Adelheid Höller ◽  
...  
Keyword(s):  
Pericentric Inversion ◽  
Array Cgh ◽  
Familial Case ◽  
Chromosome 4 ◽  
Recombinant Chromosome

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.

Recombinant Chromosome 4 with Partial 4p Deletion and 4q Duplication Inherited from Paternal Pericentric Inversion

2010 ◽  
Vol 30 (1) ◽  
pp. 89-92 ◽  
Author(s):  
Se Jin Mun ◽  
Eun Hae Cho ◽  
Myoung-Jae Chey ◽  
Gyu-Hong Shim ◽  
Bo-Moon Shin ◽  
...  
Keyword(s):  
Pericentric Inversion ◽  
Chromosome 4 ◽  
Recombinant Chromosome

Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features

2006 ◽  
Vol 166 (1) ◽  
pp. 67-71 ◽  
Author(s):  
Agnieszka Stembalska ◽  
Izabela Laczmanska ◽  
Kamila Schlade-Bartusiak ◽  
Halina Czemarmazowicz ◽  
Marek Murawski ◽  
...  
Keyword(s):  
Pericentric Inversion ◽  
Chromosome 4 ◽  
Recombinant Chromosome ◽  
Dysmorphic Features

scholarly journals Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review

2013 ◽  
Vol 6 (1) ◽  
pp. 17 ◽  
Author(s):  
Morteza Hemmat ◽  
Omid Hemmat ◽  
Arturo Anguiano ◽  
Fatih Z Boyar ◽  
Mohammed El Naggar ◽  
...  
Keyword(s):  
Literature Review ◽  
Array Cgh ◽  
Chromosome 4 ◽  
Recombinant Chromosome ◽  
Phenotype Analysis

Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes)

2004 ◽  
Vol 25 (1) ◽  
pp. 45-55 ◽  
Author(s):  
Hildegard Kehrer-Sawatzki ◽  
Catharina Sandig ◽  
Nadia Chuzhanova ◽  
Violaine Goidts ◽  
Justyna M. Szamalek ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Pan Troglodytes ◽  
Pericentric Inversion ◽  
Homologous Chromosome ◽  
Chromosome 4 ◽  
Breakpoint Analysis ◽  
Human Chromosome 4

scholarly journals A homozygote for pericentric inversion of chromosome 4.

1982 ◽  
Vol 19 (6) ◽  
pp. 469-471 ◽  
Author(s):  
N J Carpenter ◽  
B Say ◽  
N D Barber
Keyword(s):  
Pericentric Inversion ◽  
Chromosome 4

scholarly journals Recombinant chromosome 4 in two fetuses - case report and literature review

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
Yi Wu ◽  
Yanlin Wang ◽  
Shi Wu Wen ◽  
Xinrong Zhao ◽  
Wenjing Hu ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Chromosome 4 ◽  
Recombinant Chromosome

Recombinant chromosome 18 resulting from a maternal pericentric inversion

1994 ◽  
Vol 50 (4) ◽  
pp. 323-325 ◽  
Author(s):  
Hiroshi Ayukawa ◽  
Masato Tsukahara ◽  
Masamichi Fukuda ◽  
Osamu Kondoh
Keyword(s):  
Pericentric Inversion ◽  
Chromosome 18 ◽  
Recombinant Chromosome

Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability

2021 ◽  
pp. 1-7
Author(s):  
Tuğba Karaman Mercan ◽  
Ozden Altiok Clark ◽  
Ozgur Erkal ◽  
Banu Nur ◽  
Ercan Mihci ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Array Cgh ◽  
De Novo ◽  
Homozygous Deletion ◽  
Clinical Findings ◽  
Chromosome 4 ◽  
Heterozygous Deletion ◽  
Whole Exome

Terminal deletions in the long arm of chromosome 4 are an uncommon event, with a worldwide incidence of approximately 0.001%. The majority of these deletions occur de novo. Terminal deletion cases are usually accompanied by clinical findings that include facial and cardiac anomalies, as well as intellectual disability. In this study, we describe the case of a 2-year-old girl, the fourth child born to consanguineous parents. While her karyotype was normal, a homozygous deletion was identified in the chromosome 4q35.2 region by subtelomeric FISH. A heterozygous deletion of the chromosome 4q35.2 region was observed in both parents. According to the literature, this is the first report of a case that has inherited a homozygous deletion of chromosome 4qter from carrier parents. Subsequent array-CGH analyses were performed on both the case and her parents. Whole-exome sequencing was also carried out to determine potential variants. We detected a NM_001111125.3:c.2329G&#x3e;T (p.Glu777Ter) nonsense variant of the <i>IQSEC2</i> gene in the girl, a variant that is related to X-linked intellectual disability.

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