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8q11 syndrome

Yasuhiro Iribe, Masahiro Yao, Reiko Tanaka, Naoto Kuroda, Yoji Nagashima, Yukio Nakatani, Mitsuko Furuya
Birt-Hogg-Dubé syndrome is an inherited disorder caused by germline mutations of the folliculin gene (FLCN). The affected patients are prone to developing renal cell carcinomas (RCCs). Most mutant FLCN-associated RCCs (mFLCN-RCCs) are histologically chromophobe RCCs and hybrid oncocytic/chromophobe tumors. It is incompletely understood whether mFLCN-RCCs have different chromosomal abnormalities compared with their sporadic histological counterparts. Herein, we describe somatic mutations of FLCN and DNA-copy number abnormalities using a high-density, whole-genome, single-nucleotide polymorphism array...
February 2016: American Journal of Pathology
Carlos A Tirado, David Shabsovich, Yeun Kim, Peter Traum, Sheeja Pullarkat, Michael Kallen, Nagesh Rao
BACKGROUND: Rearrangements involving ETV6 (12p13) are among the most common structural abnormalities in pediatric B-cell acute lymphoblastic leukemia (B-ALL) and involve numerous partner genes. Additionally, the t(8;14)(q11.2;q32), which can result in the placement of CEBPD (8q11.2) near the regulatory regions of IGH@ (14q32) and consequent overexpression of CEPBD, occurs at a higher frequency in individuals with Down syndrome-associated ALL (DS-ALL) compared to both the general and pediatric population...
2015: Biomarker Research
Arzu Pampal
INTRODUCTION: CHARGE "association" is a rare clinical entity with multiple congenital anomalies that necessitates a multidisciplinary approach. Its diagnosis is important not only for the pediatric surgery practice but also for the otorhinolaryngology practice as it complicates with a number of major surgical anomalies. The aim of this paper is to present the latest evidences on the genetic basis of the disease. MATERIALS AND METHODS: In order to evaluate, a computed literature review was undertaken using PubMed and OMIM databases...
July 2010: International Journal of Pediatric Otorhinolaryngology
Charlotte W Ockeloen, Nicole de Leeuw, Hanneke Mieloo, Ineke G M Reijnen, Bert B A de Vries
No abstract text is available yet for this article.
July 2010: Clinical Dysmorphology
P A Pérez-Mancera, I González-Herrero, K Maclean, A M Turner, M-Y Yip, M Sánchez-Martín, J L García, C Robledo, T Flores, A Gutiérrez-Adán, B Pintado, I Sánchez-García
The Snail-related zinc-finger transcription factor, SLUG (SNAI2), is critical for the normal development of neural crest-derived cells and loss-of-function SLUG mutations have been proven to cause piebaldism and Waardenburg syndrome type 2 in a dose-dependent fashion. However, little is known about the consequences of SLUG overexpression in embryonic development. We report SLUG duplication in a child with a unique de novo 8q11.2-->q13.3 duplication associated with tetralogy of Fallot, submucous cleft palate, renal anomalies, hypotonia and developmental delay...
2006: Cytogenetic and Genome Research
Cammon B Arrington, Brett C Cowley, Daniel R Nightingale, Holly Zhou, Arthur R Brothman, David H Viskochil
Specific genetic loci responsible for CHARGE association are currently unknown. Herein, we describe a neonate with clinical manifestations consistent with CHARGE association who has a de novo interstitial deletion involving bands 8q11.2 to 8q13. Genetic mapping and genomic microarray technology have been used to more accurately define the breakpoints of this deletion. Within the deleted region, there are approximately 150 expressed genes, one or more of which may contribute to the manifestations of CHARGE association...
March 15, 2005: American Journal of Medical Genetics. Part A
A P Dei Tos, P Dal Cin
Soft tissue tumours represent a heterogeneous group of mesenchymal lesions, and their classification is the subject of continuous debate. Chromosome analysis, molecular cytogenetics and molecular assays may become increasingly useful in diagnosis, and this review summarises advances in the cytogenetic characterisation and classification of soft tissue tumours. Among the group of fibrous lesions, superficial fibromatosis exhibits trisomy 8. This genomic change is also observed in desmoid fibromatosis in association with trisomy 20...
August 1997: Virchows Archiv: An International Journal of Pathology
R E Stevenson, M May, J F Arena, E A Millar, C I Scott, R J Schroer, R J Simensen, H A Lubs, C E Schwartz
Aarskog-Scott syndrome was tentatively mapped to Xq13 on the basis of an X:8 translocation by Bawle et al. [Am J Med Genet 17:595-602, 1984]. A review of the cytogenetics and the use of molecular markers in that family have resulted in revision of the breakpoints of the translocation to Xp 11.2 and 8q11.21 [Glover et al., Hum Mol Genet 2:1717-1718, 1993]. Two families, including one of the two initial families with Aarskog-Scott syndrome [Scott, BD:OAS VII (6): 240-246, 1971], have participated in our study to evaluate the localization of the gene for Aarskog-Scott syndrome to the pericentromeric region of the X chromosome...
September 1, 1994: American Journal of Medical Genetics
A A Schinzel, W P Robinson, F Binkert, A Fanconi
Silver-Russell syndrome (SRS) is characterized by pre- and postnatal growth retardation, a fine, triangular face, a high frontal hairline and prominent forehead, clinodactyly of the fifth fingers, and sometimes asymmetry of face, trunk and extremities. In a 10-year-old girl referred for SRS, cytogenetic examination disclosed a microdeletion of band 8q12. Dosage analysis of Southern blots hybridized to 8q markers revealed a deletion of three loci: MOS, D8S96 and D8S108, all mapping to 8q11-q12, however the deletion did not include PLAT (8q12-q11)...
January 1994: Clinical Dysmorphology
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