Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)

Çetin, Zafer; Mendilcioğlu, İnanç; Yakut, Sezin; Berker-Karaüzüm, Sibel; Karaman, Birsen; Lülecı, Güven

doi:10.2478/v10034-011-0019-y

Cited by 4 publications

(5 citation statements)

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“…In a family case, mother and daughter have X chromosome abnormalities and a balanced translocation with a 45,X,t ( [11]. This highlighted the relevance of parental chromosome analysis of TS patients with a reciprocal, not only to identify the origin of the but also to evaluate whether parents carry numerical X chromosome abnormalities in a mosaic form.…”

Section: Discussionmentioning

confidence: 99%

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Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

et al. 2020

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Background Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentation The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool. Conclusion To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.

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Section: Discussionmentioning

confidence: 99%

“…The coexistence of autosomal translocations and structural/numerical abnormalities of the X chromosome are a rarely reported, there are 12 cases published [9][10][11][12][13][14][15][16][17][18][19][20]. Here we describe a mosaic Turner syndrome patient with a maternally inherited reciprocal translocation with breakpoints at 2p13 and 12q24.…”

Section: Open Accessmentioning

confidence: 99%

Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

et al. 2020

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“…In a cohort of 146 Serbian patients with Turner syndrome, a 12-year old girl with short stature, primary amenorrhea with autosomal translocation of chromosomes 12 and 14, that is, 45X/46XX, t(12,14), was found [15]. Cetin et al reported an inherited reciprocal translocation and structural abnormality of the X chromosome (isochromosome Xq) in 16-year-old patient with Turner somatic features [16]. Our patient did not present at that time evident Turnerian phenotype.…”

Section: Discussionmentioning

confidence: 99%

Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)

Latrech

Rabasa‐Lhoret

Gaouzi

2018

Case Reports in Endocrinology

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Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation.

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“…5 Además, la duplicación de una región en el cromosoma 17p13.3 ha emergido como un nuevo síndrome distintivo (OMIM #613215). 9 L a s c a r a c t e r í s t i c a s f e n o t í p i c a s d e e s t e síndrome incluyen restricción del crecimiento intrauterino (RCIU), retardo del desarrollo psicomotor, hipotonía, dismorfismo craneofacial, braquidactilia, falanges distales acortadas, hallux valgus, de leve a moderado déficit cognitivo, problemas comportamentales pertenecientes a l e s p e c t r o a u t i s t a y , o c a s i o n a l m e n t e , malformaciones cerebrales que afectan el cuerpo calloso, el cerebelo y la fosa posterior.…”

Section: Figura 3 Cariotipo De La Pacienteunclassified

“…1,4 El cariotipo en aproximadamente el 50% de las pacientes con síndrome de Turner muestra una monosomía X universal (45,X), seguida en frecuencia por isocromosomas del brazo largo del cromosoma X de forma universal [46,X,i(X) (q10)] y finalmente por los mosaicismos de la monosomía X y el isocromosoma Xq [i(Xq)]. 5,6 La asociación del síndrome de Turner con rearreglos en el cromosoma 17 y una forma de catarata congénita con herencia autosómica dominante (AD) y penetrancia incompleta no ha sido descrita previamente, ya que incluso esta forma de catarata de forma aislada es excepcionalmente rara.…”

Section: Introductionunclassified

Isocromosoma Xq en mosaico y microduplicación 17p13.3p13.2 en una paciente con síndrome de Turner y catarata congénita

Martínez

Guio

2015

Arch Argent Pediat

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Presentación de casos clínicos RESUMENLa combinación del síndrome de Turner con otros trastornos genéticos, como la catarata congénita, ha sido reportada. Sin embargo, su asociación con una forma de catarata nuclear congénita con herencia autosómica dominante y penetrancia incompleta no ha sido reportada previamente en la literatura. Tampoco existen reportes de su presentación junto con rearreglos en el cromosoma 17. A continuación, presentamos el excepcional caso de una paciente con una constelación de anomalías mayores y menores, diagnosticada con síndrome de Turner en mosaico por isocromosoma Xq, asociado a una microduplicación 17p13.3p13.2, quien además presenta catarata nuclear congénita bilateral de herencia autosómica dominante con penetrancia incompleta. Se realiza una revisión acerca del origen y la causa de estas alteraciones genéticas y una aproximación a la hipótesis de la patogénesis de la asociación de dos de estos trastornos genéticos en una misma paciente. Palabras clave: síndrome de Turner, isocromosoma Xq, catarata congénita, mosaicismo cromosómico, microduplicación 17p. ABSTRACTThe combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an Isocromosoma Xq en mosaico y microduplicación 17p13.3p13.2 en una paciente con síndrome de Turner y catarata congénita Mosaic isochromosome Xq and microduplication 17p13.3p13.2 in a patient with Turner syndrome and congenital cataract approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient.

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Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)

Cited by 4 publications

References 9 publications

Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)

Isocromosoma Xq en mosaico y microduplicación 17p13.3p13.2 en una paciente con síndrome de Turner y catarata congénita

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