A patient with Trisomy 13 mosaicism: review and case report

Mustaki, U; Jackson, Stephen G.

doi:10.1186/1753-6561-9-s1-a51

Cited by 3 publications

(3 citation statements)

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“…Later, in 1960, Patau defined its chromosomal anomaly [ 4 ]. The trisomy 13 incidence, which is the same in both sexes, is on the order of 1/10000 [ 5 ]. It may be released without fear of recurrence or as a result of a parental translocation.…”

Section: Discussionmentioning

confidence: 99%

Trisomy 13 With Bilateral Congenital Anophthalmia: A Case Report

Bahari,

Hajaj,

Ayyad

et al. 2024

Cureus

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Trisomy 13, also known as Patau syndrome, is a widely congenital anomaly syndrome characterized by microphthalmia, cleft lip, and palate, microcephaly with a sloping forehead, congenital heart disease, and polydactyly of the limbs. Patau syndrome is identified either prenatally or postnatally. Its survival rate is low, and most of the patients die even before their first year of life. The risk of trisomy 13 is higher in women of advanced maternal age. Brain and cardiovascular abnormalities are typically the primary factors contributing to the syndrome's poor prognosis. We report a case of a male newborn born at full term from a first-degree consanguineous marriage. Upon initial inspection, the patient had classic dysmorphic features, including low-set ears, a cleft lip and palate, a short neck, bilateral anophthalmia, and polydactyly of the limbs. After chromosomal analysis, the diagnosis was made, and a trisomy 13 was discovered.

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Section: Discussionmentioning

confidence: 99%

Trisomy 13 With Bilateral Congenital Anophthalmia: A Case Report

Bahari,

Hajaj,

Ayyad

et al. 2024

Cureus

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“…En el 2-5% de los casos, por medio del cariotipo se presentan poblaciones de células que son euploicas y aneuploicas. 5,6 Lo que genera una aberración que se la conoce como mosaicismo (alteración en la que coexisten células con cromosomas normales y anormales dentro de un mismo organismo) el cual aún no está bien establecida su causa. Cuando la T13 es completa, aproximadamente la mitad de los embarazos resulta en muerte intrauterina, la otra mitad resulta en nacidos vivos; de aquellos, aproximadamente el 80% muere en el día 1, siendo la tasa de mortalidad a la primera semana >90%.…”

Section: Discussionunclassified

Síndrome de Patau mosaico en paciente pediátrico: reporte de caso

et al. 2020

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La trisomía 13 o Síndrome de Patau es una entidad rara cuya incidencia varía entre 1/5000 y 1/12000 nacidos vivos, con un predominio por el sexo femenino. Ocupa el tercer lugar en frecuencia de las anepleudías y la tasa de supervivencia es baja, 3-10% en el primer año de vida, debido al compromiso del sistema nervioso central y el aparato cardiovascular (80% de los casos). La gravedad de las manifestaciones clínicas dependerá del mecanismo por el cual se produjo la trisomía: no disyunción, translocación o mosaicismo. La supervivencia en este síndrome puede ser prolongada en individuos mosaicos; sin embargo, este es un fenómeno poco frecuente que aparece aproximadamente en 5% de los casos. A continuación se expondrá el caso de una niña de 7 años de edad con síndrome de Patau diagnosticado mediante un cariotipo que muestra un mosaicismo del cromosoma 13.

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“…In 5% of cases, not all cells are trisomic; some are euploid; this is known as trisomy 13 mosaicism. This entity is not well described but may lead to a milder form of the disease [ 3 ]. Delayed puberty is yet to be reported in these patients, likely owing to the short life expectancy.…”

Section: Introductionmentioning

confidence: 99%

Mosaic trisomy 13 and constitutional delay in puberty

Eltayeb

Bashier

Hussain

2022

Oxford Medical Case Reports

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Patau syndrome is the third most frequent chromosomal trisomy, with an estimated mortality rate that is about 50 times higher than the general neonatal mortality rate. Trisomy 13 mosaicism is a subtype that may result in a milder form of the disease, potentially leading to a longer life expectancy in these patients, allowing them to reach puberty. In this report, we discuss the case of a young boy who was evaluated for delayed puberty and karyotyping revealed mosaicism for trisomy 13. A detailed history, physical examination and appropriate laboratory studies and imaging were performed that showed a picture of suggestive of hypogonadotropic hypogonadism and an abnormal male karyotype with mosaicism for trisomy 13. To date, there is no clear explanation to the association between trisomy 13 and gonadal axis, specifically with normal imaging of pituitary. We postulate that delayed puberty could be a clinical feature of mosaic trisomy 13.

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A patient with Trisomy 13 mosaicism: review and case report

Cited by 3 publications

References 1 publication

Trisomy 13 With Bilateral Congenital Anophthalmia: A Case Report

Trisomy 13 With Bilateral Congenital Anophthalmia: A Case Report

Síndrome de Patau mosaico en paciente pediátrico: reporte de caso

Mosaic trisomy 13 and constitutional delay in puberty

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