|Embryology - 21 Jun 2018 Expand to Translate|
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|Educational Use Only - Embryology is an educational resource for learning concepts in embryological development, no clinical information is provided and content should not be used for any other purpose.|
Monosomy refers to the presence of only one chromosome from the normal pair in the embryo. A partial monosomy is when there is only one copy of a segment of a chromosome present.
A complete monosomy syndrome in female humans is seen in Turner syndrome (Monosomy X) associated with either a missing or altered second X chromosome.
A partial monosomy syndrome in humans is seen in Cri du Chat (cat's cry) syndrome associated with a piece of chromosome 5 is missing.
Some Recent Findings
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This table shows an automated computer PubMed search using the listed sub-heading term.
References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.
Julia Velz, Abbas Agaimy, Karl Frontzek, Marian Christoph Neidert, Oliver Bozinov, Ulrich Wagner, Christine Fritz, Roland Coras, Silvia Hofer, Beata Bode-Lesniewska, Elisabeth Rushing Molecular and Clinicopathologic Heterogeneity of Intracranial Tumors Mimicking Extraskeletal Myxoid Chondrosarcoma. J. Neuropathol. Exp. Neurol.: 2018; PubMed 29924341
Raymond Barnhill, Peter Vermeulen, Sofie Daelemans, Pieter-Jan van Dam, Sergio Roman-Roman, Vincent Servois, Ilse Hurbain, Sophie Gardrat, Graça Raposa, Nicolas André, Rémi Dendale, Gaëlle Pierron, Laurence Desjardins, Nathalie Cassoux, Sophie Piperno-Neumann, Pascale Mariani, Claire Lugassy Replacement and Desmoplastic Histopathological Growth Patterns: A Pilot Study of Prediction of Outcome in Patients with Uveal Melanoma Liver Metastases. J Pathol Clin Res: 2018; PubMed 29917326
Christopher E Gibson, Kara E Boodhansingh, Changhong Li, Laura Conlin, Pan Chen, Susan A Becker, Tricia Bhatti, Vaneeta Bamba, N Scott Adzick, Diva D De Leon, Arupa Ganguly, Charles A Stanley Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. Horm Res Paediatr: 2018;1-10 PubMed 29902804
Daria Gaut, Joshua Sasine, Gary Schiller Secondary clonal hematologic neoplasia following successful therapy for acute promyelocytic leukemia (APL): A report of two cases and review of the literature. Leuk Res Rep: 2018, 9;65-71 PubMed 29892552
Klaus Griewank, Christian Koelsche, Johannes A P van de Nes, Daniel Schrimpf, Marco Gessi, Inga Möller, Antje Sucker, Richard A Scolyer, Michael E Buckland, Rajmohan Murali, Torsten Pietsch, Andreas von Deimling, Dirk Schadendorf Integrated genomic classification of melanocytic tumors of the central nervous system using mutation analysis, copy number alterations and DNA methylation profiling. Clin. Cancer Res.: 2018; PubMed 29891723
International Classification of Diseases
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
Q96 Turner's syndrome Excl.: Noonan's syndrome (Q87.1)
The most common prenatal diagnosis is by either amniocentesis or chorionic villi sampling.
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Monosomy XO or Turner's syndrome results in 99% non-viable embryos, viable development fail to sexually mature at puberty.
Named after Henry Turner (1938), an American clinician who first described the condition.
Monosomy 18p Syndrome
Monosomy 18p syndrome facial features
A flat midface, mild ptosis, large ears with detached pinnae and short protruding upper lip.
Jacobsen syndrome (JS) is a rare partial deletion of the long arm of chromosome 11.
Cri du Chat Syndrome
Chromosome 5P Deletion Syndrome or "Cri du Chat" (cat's cry) is a partial monosomy syndrome occurring in humans (1:15,000 to 1:50,000 live-born infants) associated with a piece of chromosome 5 is missing, see reviews.
|Clinical Features||Malformations (infrequently associated)|
- Lucaccioni L, Wong SC, Smyth A, Lyall H, Dominiczak A, Ahmed SF & Mason A. (2015). Turner syndrome--issues to consider for transition to adulthood. Br. Med. Bull. , 113, 45-58. PMID: 25533182 DOI.
- Turleau C. (2008). Monosomy 18p. Orphanet J Rare Dis , 3, 4. PMID: 18284672 DOI.
- Mattina T, Perrotta CS & Grossfeld P. (2009). Jacobsen syndrome. Orphanet J Rare Dis , 4, 9. PMID: 19267933 DOI.
- Cerruti Mainardi P. (2006). Cri du Chat syndrome. Orphanet J Rare Dis , 1, 33. PMID: 16953888 DOI.
- Rodríguez-Caballero A, Torres-Lagares D, Rodríguez-Pérez A, Serrera-Figallo MA, Hernández-Guisado JM & Machuca-Portillo G. (2010). Cri du chat syndrome: a critical review. Med Oral Patol Oral Cir Bucal , 15, e473-8. PMID: 20038906
Search Pubmed: Monosomy
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Cite this page: Hill, M.A. (2018, June 21) Embryology Monosomy. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Monosomy
- © Dr Mark Hill 2018, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G