Mosaicism for trisomy 21: A review

Papavassiliou, Paulie; Charalsawadi, Chariyawan; Rafferty, Kelly; Jackson‐Cook, Colleen

doi:10.1002/ajmg.a.36861

Cited by 99 publications

(88 citation statements)

References 136 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Individual II‐2 does not have any observable phenotypic features suggestive of DS. The mosaic karyotype seen in II‐2 might have been caused by a post‐zygotic mitotic event, or it might have been caused by trisomy rescue of a de novo DS conception (Papavassiliou, Charalsawadi, Rafferty, & Jackson‐Cook, ).…”

Section: Resultsmentioning

confidence: 99%

Genetic diagnosis of Down syndrome in an underserved community

Sobering

Stevens

Smith

et al. 2017

American J of Med Genetics Pt A

View full text Add to dashboard Cite

It is a matter of course that in high-income countries, infants born with features suggestive of Down syndrome (DS) are offered genetic testing for confirmation of a clinical diagnosis. Benefits of a definitive diagnosis include an end to the diagnostic odyssey, informed prognosis, opportunities for caregiver support, inclusion to social support networks, and more meaningful genetic counseling. The healthcare experience for families of children born with DS in low- and middle-income nations is in stark contrast with such a level of care. Barriers to obtaining genetic diagnosis might include economic disparities, geographical isolation, and lack of access to health care professionals trained in genetic medicine. As part of a combined research and community outreach effort, we provided genetic testing for several patients with DS. These individuals and their families live on several resource-limited Caribbean islands and have either limited or virtually no access to medical genetics services. Within this group were three families with recurrent DS. Karyotype established that translocation events were not involved in the DS in any of these families. This information enabled genetic counseling to help family members understand their recurrent DS. A definitive diagnosis of DS is beneficial to families in resource-limited communities and may help to provide such families with genetic counseling, reassurance, and peace of mind.

show abstract

Section: Resultsmentioning

confidence: 99%

Genetic diagnosis of Down syndrome in an underserved community

Sobering

Stevens

Smith

et al. 2017

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…In cases of mosaicism, the phenotype is usually milder than that in cases of full trisomy, such as trisomy 21 (Papavassiliou, Charalsawadi, Rafferty, & Jackson‐Cook, ). Notably, a unique feature of T13 is that the variable expressivity is not entirely related to mosaicism (Hsu & Hou, ).…”

Section: Disucussionmentioning

confidence: 99%

The outcomes of 31 cases of trisomy 13 diagnosed in utero with various management options

Takahashi

Sasaki

Wada

et al. 2017

American J of Med Genetics Pt A

View full text Add to dashboard Cite

There are few reports on the prognosis of prenatally diagnosed trisomy 13 in relation to postnatal management. The aim of this study was to report on the prenatal and postnatal outcomes and postnatal management of trisomy 13 fetuses that were prenatally diagnosed at our center between 2003 and 2015. The data were retrospectively reviewed from medical records. Of the 31 cases of trisomy 13, 12 patients were diagnosed before 22 weeks of gestation, and 19 were diagnosed at or after 22 weeks of gestation. Nine families opted for termination of the pregnancy, 14 fetuses died, and 8 were born alive. Aggressive treatment was requested in two of the live births, with one patient achieving long-term survival (7 years). The other died during infancy (Day 61). One out of four who received palliative treatment is alive at two years of age with only nutrition supplementation. These three patients who achieved neonatal survival had few structural anomalies. Fetal death and early neonatal death are common in trisomy 13; however, fetuses that receive medical treatment for cases without major ultrasound abnormalities may achieve neonatal survival. Therefore, it is useful to provide comprehensive information, including precise ultrasound findings and treatment options, to parents with trisomy 13 fetuses during genetic counseling.

show abstract

“…Down syndrome (DS) also known as trisomy 21 is the most chromosomal abnormality, with an incidence of 1 in every 1,000 to 1:1,100 infants (Flores‐Ramírez et al, ; Lukowskia, Milojevichb, & Ealesc, ; Papavassiliou, Charalsawadi, Rafferty, & Jackson‐Cook, ). DS is a genetic abnormality caused by the existence of additional copy or part of human chromosome 21 (Antonarakis & Epstein, ; Karmiloff‐Smith et al, ; Patterson, ; Ringman, Rao, Lu, & Cederbaum, ).…”

Section: Introductionmentioning

confidence: 99%

“…Less frequency mosaicism for trisomy 21 and translocation can also lead to DS (Bornstein et al, ; Ringman et al, ). Ninety to ninety‐five per cent of people affected with DS had an extra copy of entire chromosome 21 in all cells (Papavassiliou et al, ), and in 3%–5% of cases, mosaicism is the reason of DS resulted by a nondisjunction post‐zygotic incident (Flores‐Ramírez et al, ). Robertsonian translocations have been observed in four per cent of DS individuals in which chromosome 21 is translocated to another acrocentric chromosome.…”

Section: Introductionmentioning

confidence: 99%

A male Down syndrome with two normal boys: Cytogenetic, paternity and andrological investigations

Jazayeri

Gorjizadeh²

2020

Andrologia

View full text Add to dashboard Cite

Down syndrome is the most common autosomal chromosome anomaly with several medical abnormalities and intellectual disability, occurring in about of 1:1,000 to 1:1,100 infants. Many pregnancies in women with Down syndrome produce children both with normal and with trisomy 21, whereas males are infertile. However, Down syndrome males are not always infertile and this is not global. Here we reported a 36‐year‐old man with proved nonmosaic trisomy 21 fathered two normal boys. Paternity analysis using 26 microsatellite loci confirmed that Down syndrome male is the biological father of his two normal boys. Serum LH, FSH, testosterone and 17‐OH progesterone were all in the normal range in this father with Down syndrome. To the best of our knowledge, this is the second report of one man with Down syndrome who has two normal children in the world. The current study not only supports the rare evidence of the fertility of males with Down syndrome but also highlights the caution in advising people responsible for the care of adults with this condition about possible fertility and transmission of sexual diseases as well.

show abstract

Mosaicism for trisomy 21: A review

Cited by 99 publications

References 136 publications

Genetic diagnosis of Down syndrome in an underserved community

Genetic diagnosis of Down syndrome in an underserved community

The outcomes of 31 cases of trisomy 13 diagnosed in utero with various management options

A male Down syndrome with two normal boys: Cytogenetic, paternity and andrological investigations

Contact Info

Product

Resources

About