Mosaic Double Aneuploidy with Edwards-Klinefelter Syndromes (48,XXY, +18/46XY)

Vaniawala, Salil; Pankaj, Gadhia

doi:10.12691/ajmsm-2-6-4

Cited by 2 publications

(7 citation statements)

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“…Double aneuploidy occurs when two aneuploidies involving two different chromosomes coexist in a single individual. Double autosomal syndrome, which can be formed by a combination of two autosomes (48+18+21, 48+13+21, 48+13+18) or a sex chromosome and an autosome (48 XXY+21, 48 XYY+18, 46 ×0+21), is unusual in live newborns 1 , 7 . ES (Trisomy 18 syndrome) is far less common in live births than Down Syndrome (Trisomy 21) and Patau syndrome (Trisomy 13).…”

Section: Discussionmentioning

confidence: 99%

“…Small firm testes, androgen insufficiency, and azoospermia are all manifestations of KS 6 . When these two syndromes coexist, the clinical features of ES predominate, and it is difficult to diagnose KS clinically without karyotyping 1 , 7 . Before the birth of the foetus, the diagnosis is confirmed by both amniocentesis and cordocentesis, in addition to many other prenatal sonographic findings that are associated with these syndromes 2 .…”

Section: Introductionmentioning

confidence: 99%

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Double aneuploidy in a 2-month-old male with Edward syndrome and Klinefelter syndrome: a case report

Mansour,

AlZoubi,

Zoukar

et al. 2023

Annals of Medicine &Amp; Surgery

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Introduction and importance: Edward syndrome is a severe chromosomal defect that occurs as a result of non-disjunction through meiosis. It presents with cardiac septal defects, horseshoe kidneys, patent ductus arteriosus, central nervous system dysgenesis, distinctive craniofacial deformities, and overriding or overlapping fingers. Klinefelter syndrome (47, XXY) is found in 1 in 660 newborn males. It is considered to be one of the most common genetic causes of infertility. It manifests with small firm testes, androgen insufficiency, and azoospermia. Case presentation: A two-month-old male infant with a history of weakness in feeding, frequent convulsions, and an increase in cyanosis two days ago. There were multiple skeletal deformities and a tendency to spasm in the extremities, left ventricular atrophy, mitral atresia, atrial septal defect, ventricular septal defect with dilated right cavities, tricuspid valve regurgitation, pulmonary valve stenosis; and the aorta exits in the right ventricle. There is a widening of the subdural space, which was observed in the left frontal-parietal side with cortical atrophy in that area and a widening of the Sylvian fissure. A karyotype test confirmed the presence of Edward and Klinefelter syndromes. Clinical Discussion: Aneuploidy is a chromosomal issue characterized by an abnormal number of a chromosome copies. The coexistence of two aneuploidies is called “double aneuploidy” which is a rare occurrence. Herein, we report a case of a 2-month-old male with Edward syndrome and Klinefelter syndrome. Conclusion: This publication aims to highlight the challenges in diagnosing and treating a complicated genetic disease.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Double aneuploidy in a 2-month-old male with Edward syndrome and Klinefelter syndrome: a case report

Mansour,

AlZoubi,

Zoukar

et al. 2023

Annals of Medicine &Amp; Surgery

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“…2,6 La doble aneuploidía es la coexistencia de dos anomalías cromosómicas numéricas de pares cromosómicos diferentes en una misma persona. 1,4 Estas combinaciones pueden ser de dos autosomas (48,+18,+21; 48,+13,+21; 48,+13,+18) o de un autosoma y un cromosoma sexual (48,XXY,+21; 48,XYY,+18; 46,X,+21). La aparición de doble aneuploidía es extremadamente menos frecuente que la de aneuploidías individuales, aunque su incidencia exacta se desconoce.…”

Section: Discussionunclassified

“…Los nacidos vivos con doble aneuploidía tienen trisomías/ monosomías de los cromosomas sexuales en combinación con trisomías autosómicas potencialmente viables, como 21, 18 y 13, 1,4 y suelen presentar un fenotipo dado por la trisomía de los autosomas, como en el presente caso. 1,4 El origen de la doble aneuploidía, que conduce a la trisomía y/o monosomía de dos cromosomas diferentes, se debería a dos eventos de no disyunción meiótica diferentes. Se ha demostrado en diferentes estudios que los cromosomas adicionales en la doble aneuploidía son casi siempre de origen materno y se encuentran fuertemente asociados con la edad materna avanzada.…”

Section: Discussionunclassified

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Doble aneuploidía: síndromes de Klinefelter y Edwards (48,XXY,+18). Reporte de caso

Costa¹,

Ávila²

2017

Arch Argent Pediat

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RESUMENLa existencia de una doble aneuploidía en un mismo individuo es una anomalía cromosómica poco frecuente que involucra, mayoritariamente, al par sexual y al cromosoma 21. En el presente artículo, se expone el caso clínico de un niño con la doble aneuploidía 48,XXY,+18. El fenotipo del paciente era coincidente con el síndrome de Edwards. El diagnóstico se efectuó mediante la realización del estudio citogenético de linfocitos de sangre periférica. En la bibliografía revisada, solo se han encontrado 15 casos reportados de pacientes con síndromes de Klinefelter y Edwards. Palabras clave: doble aneuploidía, síndrome de Klinefelter, trisomía 18, fenotipo, cariotipo. ABSTRACTThe co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far.

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Mosaic Double Aneuploidy with Edwards-Klinefelter Syndromes (48,XXY, +18/46XY)

Cited by 2 publications

References 7 publications

Double aneuploidy in a 2-month-old male with Edward syndrome and Klinefelter syndrome: a case report

Double aneuploidy in a 2-month-old male with Edward syndrome and Klinefelter syndrome: a case report

Doble aneuploidía: síndromes de Klinefelter y Edwards (48,XXY,+18). Reporte de caso

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