|Embryology - 25 Apr 2019 Expand to Translate|
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|LD50.0 Turner syndrome
LD43 Complete monosomies of the autosomes | LD43.0 Complete monosomy of autosome | LD43.1 Mosaic monosomy of autosome | LD44.51 Deletions of the short arm of chromosome 5 LD44.B0 Deletions of the long arm of chromosome 11
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 (LD44.51 Deletions of the short arm of chromosome 5).
Jacobsen Syndrome LD44.B0 Deletions of the long arm of chromosome 11
Monosomy 18p Syndrome LD44.J1 Deletions of the short arm of chromosome 18
Monosomy 21 LD44.M Deletions of chromosome 21
Some Recent Findings
|More recent papers|
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
|These papers originally appeared in the Some Recent Findings table, but as that list grew in length have now been shuffled down to this collapsible table.|
The most common prenatal diagnosis is by either amniocentesis or chorionic villi sampling.
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|ICD-11 LD50.0 Turner syndrome - 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.|
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
|ICD-11 LD44.J1 Deletions of the short arm of chromosome 18|
A flat midface, mild ptosis, large ears with detached pinnae and short protruding upper lip.
|ICD-11 LD44.B0 Deletions of the long arm of chromosome 11|
Cri du Chat Syndrome
|ICD-11 LD44.51 Deletions of the short arm of chromosome 5|
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)|
- Mamsen LS, Charkiewicz K, Anderson RA, Telfer EE, McLaughlin M, Kelsey TW, Kristensen SG, Gook DA, Ernst E & Andersen CY. (2019). Characterization of follicles in girls and young women with Turner syndrome who underwent ovarian tissue cryopreservation. Fertil. Steril. , , . PMID: 30922638 DOI.
- Viuff M, Skakkebaek A, Nielsen MM, Chang S & Gravholt CH. (2019). Epigenetics and genomics in Turner syndrome. Am J Med Genet C Semin Med Genet , 181, 68-75. PMID: 30811826 DOI.
- Talaulikar VS, Conway GS, Pimblett A & Davies MC. (2019). Outcome of ovarian stimulation for oocyte cryopreservation in women with Turner syndrome. Fertil. Steril. , 111, 505-509. PMID: 30598170 DOI.
- Borini A & Coticchio G. (2019). Oocyte quantity and quality are crucial for a perspective of fertility preservation in women with Turner syndrome. Fertil. Steril. , 111, 461-462. PMID: 30722942 DOI.
- Siller AF, Shimony A, Shinawi M, Amarillo I, Dehner LP, Semenkovich K & Arbeláez AM. (2019). Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome. J Clin Res Pediatr Endocrinol , 11, 88-93. PMID: 29739732 DOI.
- 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. (2019, April 25) Embryology Monosomy. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Monosomy
- © Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G