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* Characterization of follicles in girls and young women with Turner syndrome who underwent ovarian tissue cryopreservation{{#pmid:30922638|PMID30922638}} "To characterize ovarian follicles of girls and young women with Turner syndrome (TS) who underwent ovarian tissue cryopreservation (OTC). Fifteen girls and young women with TS aged 5-22 years at OTC were included, together with 42 control girls and young women aged 1-25 years who underwent OTC because of cancer. Follicle density (follicles/mm3), morphology, and health were assessed in ovarian cortex biopsies from TS patients and compared with controls. Hormone concentrations were measured in serum and follicle fluids. Immature cumulus oocyte complexes were obtained and matured in vitro. Follicles were found in 60% of the biopsies (9 of 15) from TS ovaries. In 78% of the ovaries (7 of 9) with follicles, the follicle density was within the 95% confidence interval of the control group. There was a high rate of abnormal follicle morphology. Six follicle-specific proteins were expressed similarly in TS and control ovaries. However, apoptosis and zona pellucida protein expression were found to be abnormal in TS. Turner syndrome follicle fluid from small antral follicles had lower concentrations of estrogen and testosterone and higher concentrations of antimüllerian hormone than controls. Thirty-one cumulus oocyte complexes were collected from one patient and cultured for 48 hours in vitro, resulting in five metaphase II oocytes (maturation rate 16%, degeneration rate 19%). The benefits of OTC may be limited to a highly selected group of TS mosaic patients in whom a sizeable pool of normal follicles is present at OTC." | * '''Characterization of follicles in girls and young women with Turner syndrome who underwent ovarian tissue cryopreservation'''{{#pmid:30922638|PMID30922638}} "To characterize ovarian follicles of girls and young women with Turner syndrome (TS) who underwent ovarian tissue cryopreservation (OTC). Fifteen girls and young women with TS aged 5-22 years at OTC were included, together with 42 control girls and young women aged 1-25 years who underwent OTC because of cancer. Follicle density (follicles/mm3), morphology, and health were assessed in ovarian cortex biopsies from TS patients and compared with controls. Hormone concentrations were measured in serum and follicle fluids. Immature cumulus oocyte complexes were obtained and matured in vitro. Follicles were found in 60% of the biopsies (9 of 15) from TS ovaries. In 78% of the ovaries (7 of 9) with follicles, the follicle density was within the 95% confidence interval of the control group. There was a high rate of abnormal follicle morphology. Six follicle-specific proteins were expressed similarly in TS and control ovaries. However, apoptosis and zona pellucida protein expression were found to be abnormal in TS. Turner syndrome follicle fluid from small antral follicles had lower concentrations of estrogen and testosterone and higher concentrations of antimüllerian hormone than controls. Thirty-one cumulus oocyte complexes were collected from one patient and cultured for 48 hours in vitro, resulting in five metaphase II oocytes (maturation rate 16%, degeneration rate 19%). The benefits of OTC may be limited to a highly selected group of TS mosaic patients in whom a sizeable pool of normal follicles is present at OTC." | ||
* '''Epigenetics and genomics in Turner syndrome'''{{#pmid:30811826|PMID30811826}} "The pathogenesis of Turner syndrome (TS) and the genotype-phenotype relationship has been thoroughly investigated during the last decade. It has become evident that the phenotype seen in TS does not only depend on simple gene dosage as a result of X chromosome monosomy. The origin of TS specific comorbidities such as infertility, cardiac malformations, bone dysgenesis, and autoimmune diseases may depend on a complex relationship between genes as well as transcriptional and epigenetic factors affecting gene expression across the genome. Furthermore, two individuals with TS with the exact same karyotype may exhibit completely different traits, suggesting that no conventional genotype-phenotype relationship exists. Here, we review the different genetic mechanisms behind differential gene expression, and highlight potential key-genes essential to the comorbidities seen in TS and other X chromosome aneuploidy syndromes. KDM6A, important for germ cell development, has shown to be differentially expressed and methylated in Turner and Klinefelter syndrome across studies. Furthermore, TIMP1/TIMP3 genes seem to affect the prevalence of bicuspid aortic valve. KDM5C could play a role in the neurocognitive development of Turner and Klinefelter syndrome. However, further research is needed to elucidate the genetic mechanism behind the phenotypic variability and the different phenotypic traits seen in TS." | * '''Epigenetics and genomics in Turner syndrome'''{{#pmid:30811826|PMID30811826}} "The pathogenesis of Turner syndrome (TS) and the genotype-phenotype relationship has been thoroughly investigated during the last decade. It has become evident that the phenotype seen in TS does not only depend on simple gene dosage as a result of X chromosome monosomy. The origin of TS specific comorbidities such as infertility, cardiac malformations, bone dysgenesis, and autoimmune diseases may depend on a complex relationship between genes as well as transcriptional and epigenetic factors affecting gene expression across the genome. Furthermore, two individuals with TS with the exact same karyotype may exhibit completely different traits, suggesting that no conventional genotype-phenotype relationship exists. Here, we review the different genetic mechanisms behind differential gene expression, and highlight potential key-genes essential to the comorbidities seen in TS and other X chromosome aneuploidy syndromes. KDM6A, important for germ cell development, has shown to be differentially expressed and methylated in Turner and Klinefelter syndrome across studies. Furthermore, TIMP1/TIMP3 genes seem to affect the prevalence of bicuspid aortic valve. KDM5C could play a role in the neurocognitive development of Turner and Klinefelter syndrome. However, further research is needed to elucidate the genetic mechanism behind the phenotypic variability and the different phenotypic traits seen in TS." |
Revision as of 12:18, 15 April 2019
Embryology - 16 Jun 2024 Expand to Translate |
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ICD-11 |
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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 |
Introduction
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).
Other described autosomal monosomies include chromosomes: 3, 7, 11 Jacobsen Syndrome, 18 Monosomy 18p Syndrome and 21.
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
Genital System - Abnormalities
Some Recent Findings
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More recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Monosomy | Turner syndrome |
Older papers |
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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.
See also the Discussion Page for other references listed by year and References on this current page. |
Prenatal Diagnosis
The most common prenatal diagnosis is by either amniocentesis or chorionic villi sampling.
- Links: amniocentesis | chorionic villus sampling
Movies
Monosomy |
Page | Play |
Monosomy X
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.
ICD-11 Descriptions
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 LD44.J1 Deletions of the short arm of chromosome 18
Monosomy 18p syndrome facial features[7]
A flat midface, mild ptosis, large ears with detached pinnae and short protruding upper lip.
Jacobsen Syndrome
Jacobsen syndrome (JS) is a rare partial deletion of the long arm of chromosome 11.[8]
Jacobsen Syndrome LD44.B0 Deletions of the long arm of chromosome 11
Cri du Chat Syndrome
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.[9][10]
Clinical Features | Malformations (infrequently associated) |
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- Links: OMIM123450 | Cri du Chat - audio recording
References
- ↑ 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.
- ↑ 9.0 9.1 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
Reviews
Agarwal P, Philip R, Gutch M & Gupta KK. (2013). The other side of Turner's: Noonan's syndrome. Indian J Endocrinol Metab , 17, 794-8. PMID: 24083159 DOI.
Hong D, Scaletta Kent J & Kesler S. (2009). Cognitive profile of Turner syndrome. Dev Disabil Res Rev , 15, 270-8. PMID: 20014362 DOI.
Turleau C. (2008). Monosomy 18p. Orphanet J Rare Dis , 3, 4. PMID: 18284672 DOI.
Cerruti Mainardi P. (2006). Cri du Chat syndrome. Orphanet J Rare Dis , 1, 33. PMID: 16953888 DOI.
Ross J, Zinn A & McCauley E. (2000). Neurodevelopmental and psychosocial aspects of Turner syndrome. Ment Retard Dev Disabil Res Rev , 6, 135-41. PMID: 10899807 <135::AID-MRDD8>3.0.CO;2-K DOI.
Articles
Ross JL, Roeltgen D, Kushner H, Wei F & Zinn AR. (2000). The Turner syndrome-associated neurocognitive phenotype maps to distal Xp. Am. J. Hum. Genet. , 67, 672-81. PMID: 10931762 DOI.
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Cite this page: Hill, M.A. (2024, June 16) Embryology Monosomy. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Monosomy
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