Diseases From Altered Chromosomes: Cri Du Chat and Chronic Myelogenous Leukemia (Campbell Biology)
Many deletions in human chromosomes, even in a heterozygous state, cause severe problems. One such syndrome, known as cri du chat (“cry of the cat”), results from a specific deletion in chromosome 5. A child born with this deletion is severely intellectually disabled, has a small head with unusual facial features, and has a cry that sounds like the mewing of a distressed cat. Such individuals usually die in infancy or early childhood.
Chromosomal translocations can also occur during mitosis; some have been implicated in certain cancers, including chronic myelogenous leukemia (CML). This disease occurs when a reciprocal translocation happens during mitosis of cells that are precursors of white blood cells. The exchange of a large portion of chromosome 22 with a small fragment from a tip of chromosome 9 produces a much shortened, easily recognized chromosome 22, called the Philadelphia chromosome. Such an exchange causes cancer by creating a new “fused” gene that leads to uncontrolled cell cycle progression.
Urry, Lisa A.. Campbell Biology. Pearson Education. Kindle Edition. https://www.pearson.com/us/higher-education/series/Campbell-Biology-Series/2244849.html
Research Article: A Familial Cri-du-Chat/5p Deletion Syndrome Resulted from Rare Maternal Complex Chromosomal Rearrangements (CCRs) and/or Possible Chromosome 5p Chromothripsis
Date Published: October 15, 2013 Publisher: Public Library of Science Author(s): Heng Gu, Jian-hui Jiang, Jian-ying Li, Ya-nan Zhang, Xing-sheng Dong, Yang-yu Huang, Xin-ming Son, Xinyan Lu, Zheng Chen, Anthony W.I. Lo. http://doi.org/10.1371/journal.pone.0076985 Abstract: Cri-du-Chat syndrome (MIM 123450) is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We … Continue reading
Research Article: Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA
Date Published: July 14, 2016 Publisher: Public Library of Science Author(s): Hongtai Liu, Ya Gao, Zhiyang Hu, Linhua Lin, Xuyang Yin, Jun Wang, Dayang Chen, Fang Chen, Hui Jiang, Jinghui Ren, Wei Wang, Giuseppe Novelli. http://doi.org/10.1371/journal.pone.0159233 Abstract: The aim of this study was to assess the performance of noninvasively prenatal testing (NIPT) for fetal copy … Continue reading
Date Published: November 30, 2010 Publisher: Public Library of Science Author(s): Dorothy V. M. Bishop, Rory Edward Morty. http://doi.org/10.1371/journal.pone.0015112 Abstract: There are substantial differences in the amount of research concerned with different disorders. This paper considers why. Bibliographic searches were conducted to identify publications (1985–2009) concerned with 35 neurodevelopmental disorders: Developmental dyslexia, Developmental dyscalculia, Developmental coordination … Continue reading
Research Article: A new era in aneuploidy screening: cfDNA testing in >30,000 multifetal gestations: Experience at one clinical laboratory
Date Published: August 8, 2019 Publisher: Public Library of Science Author(s): Brittany Dyr, Theresa Boomer, Eyad A. Almasri, Jenna L. Wardrop, Jill Rafalko, Jason Chibuk, Ron M. McCullough, Kang Sun. http://doi.org/10.1371/journal.pone.0220979 Abstract Since introducing cell-free DNA screening, Sequenom Laboratories has analyzed over 1 million clinical samples. More than 30,000 of these samples were from multifetal … Continue reading