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Akademický článek

Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication

Autor: Chih-Ping Chen, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 4, Pp 596-601 (2016)

Objective: We present molecular cytogenetic characterization of a prenatally detected derivative chromosome 9 [der(9)] of unknown origin. Case Report: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal a

Externí odkaz: https://doaj.org/article/ec57f2f45f9047a89d45404005f2c4f1

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Akademický článek

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Akademický článek

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Monosomía 9p24 secundaria a translocación (2;9) en dos pacientes no relacionadas

Autor: Constanza García-Delgado, Carlos Serrano-Bello, Verónica F Morán Barroso, Alicia Cervantes, Nayla Y León-Carlos, Ariadna Berenice Morales-Jiménez

Publikováno v: Archivos Argentinos de Pediatria. 116

In patients with malformations and delayed psychomotor development it is important to discard chromosomopathies. Balanced reciprocal translocations are the most frequent chromosomopathies present in 1:500 live newborns. In general, carriers have norm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8ec6b075c32ce4e604978aa52eace88e
https://doi.org/10.5546/aap.2018.e603

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Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report

Autor: Nuket Yurur Kutlay, Özlem Türedi, Kanay Yararbas, İsmigül Akın, Günay Karataş, Ceren D. Durmaz, Ajlan Tükün, Cansu Gürbüz

Publikováno v: Cytogenetic and Genome Research. 148:19-24

We report on a 4.5-year-old boy with interstitial monosomy 9p in a unique and complex de novo rearrangement. The patient had been referred for craniofacial dysmorphism, delayed psychomotor development, and various congenital malformations. We combine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fd2f3a68157a06fe6c881b07302d417
https://doi.org/10.1159/000444872

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Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization

Autor: Marly Aparecida Spadotto Balarin, Karoly Szuhai, Carla Rosenberg, Elena Prigmore, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes, Nigel P. Carter, Milena Simioni, Ana Cristina Victorino Krepischi-Santos, Susan M. Gribble, Erika L. Freitas, Arie van Haeringen, Roseane Lopes da Silva-Grecco

Publikováno v: American Journal of Medical Genetics Part A, 155A(11), 2754-2761
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ed960076e403c75d2c4fdeb1114144f
https://doi.org/10.1002/ajmg.a.34168

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West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation

Autor: Erol, Ilknur, Saygı, Semra, Demir, Şenay, Alehan, Fusun, Sahin, Feride Iffet

Publikováno v: Journal of Pediatric Neurosciences

West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/developmental West syndrome are extensive and inc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c38e22e527ddeeebec3d6faee6ab86d3
http://europepmc.org/articles/PMC4395939

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Complex Chromosome Rearrangement 46,XY, der(9)t(Y;9)(q12;p23) in a Girl With Sex Reversal and Mental Retardation

Autor: Pao Lin Kuo, I-Wen Lee, Yen Yin Chou, Pei-Yi Chou, Shio Jean Lin, Keng Fu Hsu, Ming Chen

Publikováno v: Urology. 77:1213-1216

Monosomy 9p syndrome, also known as Alfi syndrome, has been described as a contiguous syndrome characterized by mental retardation, developmental delay, and facial dysmorphisms. Males with monosomy 9p often express variable degrees of feminization, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a66892879fb51125770c5a9bda527c5
https://doi.org/10.1016/j.urology.2010.07.473

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