|Embryology - 23 Sep 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.|
- 1 Introduction
- 2 Some Recent Findings
- 3 International Classification of Diseases
- 4 Prenatal Diagnosis
- 5 Movies
- 6 Monosomy X
- 7 Monosomy 18p Syndrome
- 8 Jacobsen Syndrome
- 9 Cri du Chat Syndrome
- 10 References
- 11 External Links
- 12 Glossary Links
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
|More recent papers|
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.
Przemyslaw Kosinski, Mahmoud Ismail, Jacques S Abramowicz Early 2D/3D ultrasound diagnosis of pleural effusion in fetuses with Turner syndrome. J Clin Ultrasound: 2018; PubMed 30229915
M Adelita Vizcaino, Doreen N Palsgrove, Ming Yuan, Caterina Giannini, Eibar Ernesto Cabrera-Aldana, Aparna Pallavajjala, Peter C Burger, Fausto J Rodriguez Granular cell astrocytoma: an aggressive IDH-wildtype diffuse gliomarwith molecular genetic features of primary glioblastoma. Brain Pathol.: 2018; PubMed 30222900
Federica Galaverna, Annalisa Ruggeri, Franco Locatelli Myelodysplastic syndromes in children. Curr Opin Oncol: 2018; PubMed 30222640
Eric J Vick, Noah Richardson, Kruti Patel, Glenda M Delgado Ramos, Alaa Altahan, Taylor Alloway, Michael G Martin ##Title## World J Oncol: 2018, 9(4);97-103 PubMed 30220946
Duygu Duran Orlowski, Levent Öztürk Music therapy in a sleepless child with Pierre Robin sequence, partial trisomy 14 and partial monosomy 21. Sleep Med.: 2018; PubMed 30213438
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.
|Page | Play|
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.
Karyotype 45, X
- Karyotype missing one X chromosome (45, X0 or 45,XO/46,XX mosaicism) ; gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotrophic hypogonadism), absence of sexual development, webbed neck, low set ears, posterior hairline, widely-spaced nipples, short fourth metacarpals, and increased carrying angle at the elbow (cubitus valgus). Often associated with renal, cardiac and ocular abnormalities.
Karyotype 46, X iso Xq
- A disease affecting females, caused by one of the two X chromosomes consisting of two q arms, which are structurally identical and contain the same genes. This disease may present with short stature, extra folds of skin on the neck, a low hairline at the back of the neck, puffiness or swelling of the hands and feet, skeletal abnormalities, ovarian hypofunction or premature ovarian failure, kidney problems, or heart defects. This disease may be differentiated from classical Turner Syndrome by a near complete lack of gonadal development, resulting in a lack of menstruation or breast development. Confirmation is through observation of an iso Xq chromosome by karyotyping.
Mosaicism, 45, X, 46, XX or XY
- A disease caused by embryonic fusion, or by the loss of one of the sex chromosomes from a cell early in embryonic development; Gonadal status: normal or variable abnormalities of sexual anatomy, maturation or function. Phenotype: normal, or abnormal sexual development.
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, September 23) 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