Chromosome Deletions

Common Name(s)

Chromosome Deletions

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome Deletions" for support, advocacy or research.

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Chromosome Disorder Outreach, Inc.

Our mission is to provide support to parents of children born with rare chromosome disorders, to gather & disseminate information, & to promote research & a positive community understanding of these disorders.

Last Updated: 2 Nov 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome Deletions" for support, advocacy or research.

Logo
Chromosome Disorder Outreach, Inc.

Our mission is to provide support to parents of children born with rare chromosome disorders, to gather & disseminate information, & to promote research & a positive community understanding of these disorders.

http://www.chromodisorder.org

Last Updated: 2 Nov 2012

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Chromosome Deletions" returned 198 free, full-text research articles on human participants. First 3 results:

Recurrent deletions of the X chromosome linked CNV64, CNV67, and CNV69 shows geographic differences across China and no association with idiopathic infertility in men.
 

Author(s): Xiulan Ma, Martin Kuete, Xiuli Gu, Hui Zhou, Chengliang Xiong, Honggang Li

Journal:

 

A recent study found that three recurrent deletions of X chromosome linked copy number variations (CNVs), CNV64, CNV67 and CNV69 were associated with idiopathic male infertility in Spanish and Italian populations, especially CNV67 resembling the azoospermia factor deletions. That ...

Last Updated: 31 Dec 1969

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Partial Deletions of Y-Chromosome in Infertile Men with Non-obstructive Azoospermia and Oligoasthenoteratozoospermia in a Turkish Population.
 

Author(s): Cemallettin Cengiz Beyaz, Sezgin Gunes, Kadir Onem, Tuba Kulac, Ramazan Asci

Journal: In Vivo. ;31(3):365-371.

 

Many genetic alterations have been identified to aid in understanding the genetic basis of male infertility, however, the cause of 30% of male infertility remains unknown. Some studies indicated that subdeletions of Y chromosome may be a reason for male infertility caused by testicular ...

Last Updated: 31 Dec 1969

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High-density array-CGH with targeted NGS unmask multiple noncontiguous minute deletions on chromosome 3p21 in mesothelioma.
 

Author(s): Yoshie Yoshikawa, Mitsuru Emi, Tomoko Hashimoto-Tamaoki, Masaki Ohmuraya, Ayuko Sato, Tohru Tsujimura, Seiki Hasegawa, Takashi Nakano, Masaki Nasu, Sandra Pastorino, Agata Szymiczek, Angela Bononi, Mika Tanji, Ian Pagano, Giovanni Gaudino, Andrea Napolitano, Chandra Goparaju, Harvey I Pass, Haining Yang, Michele Carbone

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2016 11;113(47):13432-13437.

 

We used a custom-made comparative genomic hybridization array (aCGH; average probe interval 254 bp) to screen 33 malignant mesothelioma (MM) biopsies for somatic copy number loss throughout the 3p21 region (10.7 Mb) that harbors 251 genes, including BRCA1 (breast cancer 1)-associated ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chromosome Deletions" returned 9 free, full-text review articles on human participants. First 3 results:

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
 

Author(s): Sirisha Peddibhotla, Sandesh C S Nagamani, Ayelet Erez, Jill V Hunter, J Lloyd Holder, Mary E Carlin, Patricia I Bader, Helene M F Perras, Judith E Allanson, Leslie Newman, Gayle Simpson, LaDonna Immken, Erin Powell, Aaron Mohanty, Sung-Hae L Kang, Pawel Stankiewicz, Carlos A Bacino, Weimin Bi, Ankita Patel, Sau W Cheung

Journal: Eur. J. Hum. Genet.. 2015 Jan;23(1):54-60.

 

Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that are important for the normal development ...

Last Updated: 31 Dec 1969

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Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.
 

Author(s): Michael R Rossi, Miriam S DiMaio, Bixia Xiang, Kangmo Lu, Hande Kaymakcalan, Margretta Seashore, Maurice J Mahoney, Peining Li

Journal: Am. J. Med. Genet. A. 2009 Dec;149A(12):2788-94.

 

Variable clinical presentations of patients with chromosomally detected deletions in the distal long arm (q) of chromosome 4 have been reported. The lack of molecular characterization of the deletion sizes and deleted genes hinders further genotype-phenotype correlation. Using a validated ...

Last Updated: 31 Dec 1969

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Biological and prognostic significance of chromosome 5q deletions in myeloid malignancies.
 

Author(s): Aristoteles A N Giagounidis, Ulrich Germing, Carlo Aul

Journal: Clin. Cancer Res.. 2006 Jan;12(1):5-10.

 

The presence of del(5q), either as the sole karyotypic abnormality or as part of a more complex karyotype, has distinct clinical implications for myelodysplastic syndromes (MDS) and acute myeloid leukemia. The 5q- syndrome, a subtype of low-risk MDS, is characterized by an isolated ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Aneuploidies in Embryos and Spermatozoa From Patients With Y-chromosome Microdeletions
 

Status: Recruiting

Condition Summary: Male Sterility Due to Y-chromosome Deletions

 

Last Updated: 4 Sep 2017

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Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
 

Status: Recruiting

Condition Summary: 22q13 Deletion Syndrome; Phelan-McDermid Syndrome

 

Last Updated: 31 Jul 2018

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Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome
 

Status: Recruiting

Condition Summary: Phelan-McDermid Syndrome

 

Last Updated: 9 Jul 2018

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