Monosomy

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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.

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

Turner's syndrome karyotype
Turner's syndrome karyotype

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; 45,X or 45,X0) 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


Genetic Links: genetic abnormalities | maternal age | Trisomy 21 | Trisomy 18 | Trisomy 13 | Trisomy X | trisomy mosaicism | Monosomy | Fragile X | Williams | Alagille | Philadelphia chromosome | mitochondria | VACTERL | hydatidiform mole | epigenetics | Prenatal Diagnosis | Neonatal Diagnosis | meiosis | mitosis | International Classification of Diseases | genetics

Genital System - Abnormalities

Some Recent Findings

  • Characterization of follicles in girls and young women with Turner syndrome who underwent ovarian tissue cryopreservation[1] "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[2] "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."
  • Outcome of ovarian stimulation for oocyte cryopreservation in women with Turner syndrome[3] "To study the safety and efficacy of ovarian stimulation and oocyte cryopreservation as a method of fertility preservation in women with Turner syndrome (TS). Retrospective cohort study. Seven women with TS who attended the clinic between 2011 and 2017. Ovarian stimulation and oocyte cryopreservation. The oocyte retrieval rates (mean ± SD, 9 ± 3.16) in women with TS were comparable to the published data from healthy women. The oocyte yield was higher than expected based on the low antimüllerian hormone levels. There was no correlation between baseline antimüllerian hormone or antral follicle count levels and the number of oocytes retrieved. Oocyte cryopreservation after ovarian stimulation appears to be safe and successful in women with mosaic TS who wish to consider fertility preservation." See also - Oocyte quantity and quality are crucial for a perspective of fertility preservation in women with Turner syndrome[4]
  • Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner syndrome[5] "We report a detailed phenotypic, cytogenetic and molecular characterization of a patient prenatally diagnosed with Turner syndrome (TS). In addition to having typical TS clinical characteristics including webbed neck, high arched palate and coarctation of the aorta, the patient had features less frequently seen in TS."
  • Turner syndrome-issues to consider for transition to adulthood[6] "Turner syndrome (TS) is associated with a spectrum of health problems across the age span, which requires particular attention during the transition period in these adolescents. The majority of girls with TS require oestrogen replacement from puberty onwards, which is important for adequate feminization, uterine development and maintenance of bone health. There is a lifetime increased risk from autoimmune conditions like hypothyroidism, coeliac disease, hearing loss and aortic dilatation with the potential to lead to aortic dissection. A systematic and holistic approach to provision of health care in TS is needed."
More recent papers  
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Search term: Monosomy | Turner syndrome

Older papers  
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.

Amniocentesis.jpg Cvs.jpg


Links: amniocentesis | chorionic villus sampling


Movies

Monosomic embryo icon.jpg
 ‎‎Monosomy
Page | Play

Monosomy X

 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.
Turner's syndrome karyotype

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.

Turner Syndrome X Chromosome Variations.jpg Figure shows Turner syndrome variations of the second X chromosome.
  • Completely absent (45,X)
  • Partially absent
  • Forms an isochromosome (isoXq), possessing a long arm duplication (q) and being devoid of a short arm (p)
  • In a ring formation (rX)
  • Is devoid of the homeobox gene, SHOX (short stature homeobox), the deletion being prior to the junction between Xp22.2 and Xp22.3

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

 ICD-11 LD44.J1 Deletions of the short arm of chromosome 18

Monosomy 18p syndrome facial features.jpg

Monosomy 18p syndrome facial features[7]

A flat midface, mild ptosis, large ears with detached pinnae and short protruding upper lip.

Jacobsen Syndrome

 ICD-11 LD44.B0 Deletions of the long arm of chromosome 11

Jacobsen syndrome (JS) is a rare partial deletion of the long arm of chromosome 11.[8]

Jacobsen Syndrome

Cri du Chat Syndrome

 ICD-11 LD44.51 Deletions of the short arm of chromosome 5
Chromosome 5P deletions
Chromosome 5P deletions[9]


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]


Cri du Chat - audio recording


Clinical Features Malformations (infrequently associated)
  • high-pitched monochromatic cry
  • severe psychomotor retardation.
  • severe mental retardation.
  • microcephaly
  • broad nasal bridge
  • epicanthal folds
  • micrognathia
  • abnormal dermatoglyphics
  • cardiac
  • other neurological
  • renal abnormalities
  • preauricular tags
  • syndactyly
  • hypospadias
  • cryptorchidism
Links: OMIM123450 | Cri du Chat - audio recording

References

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Turleau C. (2008). Monosomy 18p. Orphanet J Rare Dis , 3, 4. PMID: 18284672 DOI.
  8. Mattina T, Perrotta CS & Grossfeld P. (2009). Jacobsen syndrome. Orphanet J Rare Dis , 4, 9. PMID: 19267933 DOI.
  9. 9.0 9.1 Cerruti Mainardi P. (2006). Cri du Chat syndrome. Orphanet J Rare Dis , 1, 33. PMID: 16953888 DOI.
  10. 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. (2019, June 16) Embryology Monosomy. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Monosomy

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