WordNet

chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/07/22 11:12:15」(JST)

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Monosomy is a form of aneuploidy with the presence of only one chromosome (instead of the typical two in humans) from a pair.^[1] Partial monosomy occurs when only a portion of the chromosome has one copy, while the rest has two copies.

Human monosomy[edit]

Human conditions due to monosomy:

Turner syndrome - Women with Turner syndrome typically have one X chromosome instead of the usual two sex chromosomes. Turner syndrome is the only full monosomy that is seen in humans—all other cases of full monosomy are lethal and the individual will not survive development.
Cri du chat syndrome -- (French for "cry of the cat" after the distinctive noise by affected persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short p (from the word petit, French for small) arm of chromosome 5
1p36 Deletion Syndrome -- a partial monosomy caused by a deletion at the end of the short p arm of chromosome 1

References[edit]

^ "CRC - Glossary M". Archived from the original on 2007-08-08. Retrieved 2007-12-23.

Monosomy is a genetic defect caused by an incomplete set of chromosomes. Various medical conditions are caused by monosomy, some more severe than others. Along with other genetic defects, monosomy can often be identified during prenatal testing, which is why such testing is recommended for women who are at high risk. It is certainly possible for someone to live a healthy and normal life with monosomy, just as other people may be severely disabled by the condition.

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1. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
2. 性染色体異常 sex chromosome abnormalities
3. 骨髄異形成症候群における細胞遺伝学および分子遺伝学 cytogenetics and molecular genetics of myelodysplastic syndromes
4. ゲノム疾患：概要 genomic disorders an overview
5. 染色体の転座、欠失、および逆位 chromosomal translocations deletions and inversions

English Journal

Lymphoproliferative disorder that resembles heptosplenic lymphoma during maintenance treatment for T-cell acute lymphoblastic leukemia.

Hu Y, Ahmed T, Zaslav AL, Golightly M, Spitzer SG, Raetz E, Chan EL.SourceDivision of Pathology and Laboratory Medicine, Stony Brook University Medical Center, Stony Brook, New York.
Pediatric blood & cancer.Pediatr Blood Cancer.2013 Jun;60(6):E10-2. doi: 10.1002/pbc.24442. Epub 2013 Jan 9.
A 6-year-old male presented with a testicular mass, hepatosplenomegaly, and a pleural effusion while undergoing maintenance chemotherapy for treatment of T-cell acute lymphoblastic leukemia (T-ALL). He was subsequently diagnosed with a lymphoproliferative disorder that resembled hepatosplenic lympho
PMID 23303724

Fine-needle aspiration biopsy in the management of choroidal melanoma.

McCannel TA.SourceDepartment of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, Los Angeles, California, USA.
Current opinion in ophthalmology.Curr Opin Ophthalmol.2013 May;24(3):262-6. doi: 10.1097/ICU.0b013e32835ff001.
PURPOSE OF REVIEW: Fine-needle aspiration biopsy of choroidal melanoma offers an opportunity to determine the prognosis for metastasis and provide tissue resources for further study to develop molecular-based targeted therapies. Patients increasingly desire as much information as possible about thei
PMID 23455150

Japanese Journal

若年性骨髄単球性白血病(JMML)の分子機構と治療 (第73回日本血液学会学術集会) -- (シンポジウム11 The Molecular Mechanism and Treatment against MPN/MDS)

真部淳
臨床血液 53(8), 729-733, 2012-08
NAID 40019419043

Monosomy 13 in metaphase spreads is a predictor of poor long-term outcome after bortezomib plus dexamethasone treatment for relapsed/refractory multiple myeloma

KIYOTA Miki,KOBAYASHI Tsutomu,FUCHIDA Shinichi,YAMAMOTO SUGITANI Mio,OHSHIRO Muneo,SHIMURA Yuji,MIZUTANI Shinsuke,NAGOSHI Hisao,SASAKI Nana,NAKAYAMA Ryuko,CHINEN Yoshiaki,SAKAMOTO Natsumi,UCHIYAMA Hitoji,MATSUMOTO Yosuke,HORIIKE Shigeo,SHIMAZAKI Chihiro,KURODA Junya,TANIWAKI Masafumi
International journal of hematology 95(5), 516-526, 2012-05-01
NAID 10030633123