8p11 Microduplication Is Associated with Neonatal Stridor

Puvabanditsin, Surasak; Gengel, Natalie; Botti, Christina; Jacob, Marianne; Jalil, Maaz; Cabrera, Kenya; Mehta, Rajeev

doi:10.1159/000494796

Cited by 9 publications

(6 citation statements)

References 16 publications

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“…It seems that the phenotypic effects are not influenced by the position of the duplicated part (4,5). Some chromosome 8p duplications may be familial, but an appreciable number of cases result from de novo mutations (6)(7)(8)(9). Although inverted duplications adjacent to terminal deletions of chromosome 8p are the most common, cases with direct duplications have been also described (10,11).…”

Section: Introductionmentioning

confidence: 99%

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

et al. 2020

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Duplications of chromosome 8p lead to rare genetic conditions characterized by variable phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only 8p23 duplication was associated with heart defects. 8p22→ p21.3 duplications were associated with an autism spectrum disorder in several cases. We present a rare case with a de novo duplication of the entire 8p21.3→ p23.3 region, documented by karyotype, FISH, and array CGH, with t(4;8)(q35;p21.3) translocation in a 7 years-old girl. She was referred for genetic counseling at the age of 20 months due to mild dysmorphic facial features, psychomotor retardation, and a noncyanotic heart defect. Another examination carried out at the age of 5 years, enabled the diagnosis of autism spectrum disorder and attention deficit hyperactivity disorder. Upon re-examination after two years she was diagnosed with autism spectrum disorder, attention deficit hyperactivity disorder, liminal intellect with cognitive disharmony, delay in psychomotor acquisitions, developmental language delay, an instrumental disorder, and motor coordination disorder. Cytogenetic analysis using GTG technique revealed the following karyotype: 46,XX,der(4),t(4;8)(q35;p21.3). The translocation of the duplicated 8pter region to the telomeric region 4q was confirmed by FISH analysis (DJ580L5 probe). Array CGH showed: arr[GRCh37]8p23.3p21.3(125733_22400607)×3. It identified a terminal duplication, a 22.3 Mb copy number gain of chromosome 8p23.3-p21.3, between 125,733 and 22,400,607. In this case, there is a de novo duplication of a large chromosomal segment, which was translocated to chromosome 4q. Our report provides additional data regarding neuropsychiatric features in chromosome 8p duplication. The phenotypic consequences in our patient allow clinical-cytogenetic correlations and may also reveal candidate genes for the phenotypic features.

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Section: Introductionmentioning

confidence: 99%

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

et al. 2020

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“…Autism spectrum disorders, behavioral and phychiatric abnormalities have been also frequently reported (Shi et al, 2021;Firsh et al, 2011;Dong et al, 2015). Concerning brain structure malformations, agenesis of the corpus callosum and Dandy-Walker malformation have been reported (Puvabanditsin et al, 2018).…”

Section: Discussion and Review Of The Literature 18p Deletion Syndromementioning

confidence: 97%

“…Additionally, deep palmar and plantar grooves, behavioral and psychiatric abnormalities, intellectual disability accompanied with delayed speech, language and motor development, urogenital and skeletal anomalies and also malformations of the heart and the great vessels are frequent manifestations of the syndrome. Furthermore, during the perinatal and neonatal period feeding problems, hypotonia and tracheomalakia have also been described (Puvabanditsin et al, 2018).…”

Section: Discussion and Review Of The Literature 18p Deletion Syndromementioning

confidence: 99%

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Prenatal Diagnosis of 18p Deletion and 8p Trisomy Syndrome: Case Report and Review of Literature

Papamichail,

Eleftheriades,

Manolakos

et al. 2023

Preprint

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18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly between patients and may overlap with other genetic conditions. Its prenatal description is extremely rare as the fetal phenotype is often not present during pregnancy. Trisomy 8p Syndrome is characterized by heterogenous phenotype, with the most frequent components to be cardiac malformation, developmental and intellectual delay. Its prenatal diagnosis is very rare due to the unspecific sonographic features of the affected fetuses. We present a very rare case of a fetus with multiple anomalies diagnosed during the second trimester whose genomic analysis revealed a 18p Deletion and 8p trisomy Syndrome. This is the first case where this combination of DNA mutations has been described prenatally and the second case in general. The presentation of this case, as well as the detailed review of all described cases, aim to expand the existing knowledge regarding this rare condition facilitating its diagnosis in the future.

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“…En el primer caso presentado, la exeresis del tumor de tiroides, la ventilación mecánica no invasiva y los broncodilatadores mejoraron el cuadro clínico de la paciente. En el segundo caso, el flujo de aire al pasar por la tráquea, tuvo una obstrucción mecánica por estenosis, como se observa en las imágenes de fibrobroncoscopía, lo que provocó, colapso traqueal, impidiendo la entrada de aire, lo que condujo a hipoxemia severa y un desenlace desfavorable (11) (12). Una revisión sistémica realizada en adultos sanos considera que la fibrobroncoscopía es la prueba diagnóstica "estándar de oro" y que la tomografía computarizada es esencial en la visualización de las estructuras adyacentes a la vía aérea, recalcando que la reconstrucción 3D permite abordar de mejor forma el manejo y posibilita el seguimiento de los implantes biotecnológicos en casos graves (13) (14).…”

Section: Discussionunclassified

Traqueomalacia en la unidad de cuidados críticos. Reporte de 2 casos

Acosta

Muñoz

et al. 2023

MedicienciasUTA

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Introducción: Traqueomalacia en cuidados críticos, es una entidad poco frecuente en la población adulta, por lo que, presentamos dos casos clínicos relevantes, donde se evidenció una llamativa deformidad de la tráquea. En el primer caso, concomitantemente con otras enfermedades tales como, patologías tiroideas (bocio) y en el segundo caso a consecuencia de quemaduras severas, producto de la explosión de una bombona de gas de uso doméstico. Objetivo: describir dos casos clínicos de pacientes con traqueomalacia en unidad de cuidados críticos y reconocer los principales métodos diagnósticos y terapéuticos. Materiales y métodos: se realizó un estudio descriptivo, retrospectivo, presentación de 2 casos clínicos, con diagnóstico de traqueomalacia en la unidad de cuidados críticos; se solicitó el consentimiento informado institucional para revisión de historias clínicas de los pacientes estudiados y publicación de las imágenes respectivas. Discusión: Los principales signos y síntomas en ambos casos clínicos fueron: disnea, hipoxemia y fracaso de la extubación. En el primer caso clínico, el diagnóstico de traqueomalacia, resultó como hallazgo durante una intervención quirúrgica por exeresis de tumor de tiroides, en el segundo caso el diagnóstico se realizó mediante fibrobroncoscopía y se observó una pérdida anatómica de la forma normal, cilíndrica de la tráquea. Respecto al tratamiento cabe recalcar que en la actualidad la cirugía de tráquea y el desarrollo de prótesis traqueales endoluminales representan una gran alternativa terapéutica. Conclusiones: la traqueomalacia puede provocar cambios graves en la oxigenación por lo que es importante reconocer, diagnosticar y tratar oportunamente esta patología, por representar una gran comorbilidad en el paciente crítico, que incrementa la necesidad de reintubación y aumenta el fracaso en la desconexión de la ventilación mecánica.

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8p11 Microduplication Is Associated with Neonatal Stridor

Cited by 9 publications

References 16 publications

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

Prenatal Diagnosis of 18p Deletion and 8p Trisomy Syndrome: Case Report and Review of Literature

Traqueomalacia en la unidad de cuidados críticos. Reporte de 2 casos

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