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Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies.
Mol Cytogenet
April 2022
College of Medicine, University of Oklahoma Health Sciences Center, 941 Stanton L. Young Boulevard, Room 241, Oklahoma City, OK, 73104, USA.
Background: Partial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality. It has been characterized by variable sized duplications that lead to a range of phenotypes including growth retardation, developmental delay/intellectual disability, and distinctive craniofacial abnormalities. Congenital heart defects, skeletal abnormalities, urogenital anomalies, and hypotonia are found in some affected individuals.
View Article and Find Full Text PDFEndocrine abnormalities in ring chromosome 11: a case report and review of the literature.
Endocrinol Diabetes Metab Case Rep
November 2015
Endocrine Section, Hospital Federal da Lagoa , Rio de Janeiro , Brazil ; Department of Internal Medicine and Endocrine Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal de Rio de Janeiro , Rua Prof. Rodolpho Paulo Rocco, 255, 9th Floor, Ilha do Fundão, Rio de Janeiro, 21941-913 , Brazil.
Unlabelled: Ring chromosomes (RCs) are uncommon cytogenetic findings, and RC11 has only been described in 19 cases in the literature. Endocrine abnormalities associated with RC11 were reported for two of these cases. The clinical features of RC11 can result from an alteration in the structure of the genetic material, ring instability, mosaicism, and various extents of genetic material loss.
View Article and Find Full Text PDFPartial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic unbalanced translocation.
Am J Med Genet A
August 2015
Department of Pediatrics, Eulji General Hospital, College of Medicine, Eulji University, Seoul, Korea.
Partial trisomy of 11q is characterized by pre/postnatal growth retardation, microcephaly, dysmorphic craniofacial features, cognitive disability, abnormal muscle tone, inguinal hernia, and possible congenital heart defects. Here, we describe a 17-year-old male with a 17.77 Mb-sized [arr 11q23.
View Article and Find Full Text PDFA case with 46,XX,del(11)(q23.2) karyotype and poor vision with literature review.
Genet Couns
December 2014
Here we describe clinical and cytogenetic data on a female child whom had been referred to our laboratory suspected to have Turner syndrome since she had webbed neck. Cytogenetic analysis revealed that she had deletion at 11q23.2 to 11q terminal so her karyotype was ascertained as 46,XX,del(11)(q23.
View Article and Find Full Text PDFConstitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.
Eur J Med Genet
November 2013
Department of Medical Translational Sciences, University of Naples "Federico II", Naples, Italy; Neonatology Unit, AORN dei Colli - V. Monaldi Hospital, Naples, Italy. Electronic address:
Constitutional 11q deletion is a chromosome imbalance possibly found in MCA/MR patients analyzed for chromosomal anomalies. Its role in determining the phenotype depends on extension and position of deleted region. Loss of heterozygosity of 11q (region 11q23) is also associated with neuroblastoma, the most frequent extra cranial cancer in children.
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