Results 21 to 30 of about 57,297 (238)

Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12

Case Reports in Obstetrics and Gynecology, 2015
Case Details. We report rare familial unbalanced translocation of chromosomes 7 and 12, which was diagnosed prenatally at 20+3 weeks of gestation. Woman’s partner had been tested in the past and was found to be a carrier of a balanced translocation; his ...
Berrin Tezcan, Foteini Emmanouella Bredaki   +1 more
doaj   +1 more source

Identifying Balanced Chromosomal Translocations in Human Embryos by Oxford Nanopore Sequencing and Breakpoints Region Analysis

Frontiers in Genetics, 2022
Background: Balanced chromosomal aberrations, especially balanced translocations, can cause infertility, recurrent miscarriage or having chromosomally defective offspring.
Zhenle Pei, Ke Deng, Caixai Lei, Danfeng Du, Guoliang Yu, Xiaoxi Sun, Congjian Xu, Shuo Zhang   +7 more
doaj   +1 more source

A Case of Partial Trisomy of 10q and Partial Monosomy of 6p Resulting from Maternal t(6;10) (p23;q24) [PDF]

Journal of Clinical and Diagnostic Research, 2021
Chromosomal analysis is practiced routinely since long time in congenital malformations to find out structural and or numerical chromosomal aberrations.
ANJALI SATYEN SABNIS, Anurita S Pais, Gauri Pradhan   +2 more
doaj   +1 more source

Criteria to evaluate patterns of segmental and complete aneuploidies in preimplantation genetic testing for aneuploidy results suggestive of an inherited balanced translocation or inversion

F&S Reports, 2021
Objective: To define criteria for determining when preimplantation genetic testing for aneuploidy (PGT-A) results are suggestive of a potential balanced chromosomal rearrangement in the egg or sperm source and warrant karyotyping.
Alyssa C. Snider, Ph.D., C.G.C., Tristan Darvin, M.S., Lauren Spor, B.S., Adedoyin Akinwole, M.P.H., Cengiz Cinnioglu, Ph.D., Refik Kayali, Ph.D.   +5 more
doaj   +1 more source

Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

Egyptian Journal of Medical Human Genetics, 2016
We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anomalies of the face were the following: slight upward palpebral fissures, ocular
J.A. Avina Fierro, D.A. Hernandez Avina
doaj   +1 more source

A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones [PDF]

, 1993
The identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ ...
A Kallioniemi, Anna Jauch, B Dutrillaux, C Lengauer, C Lengauer, CC Collins, Christoph Lengauer, D Pinkel, Detlev Schindler, DH Ledbetter, DH Ledbetter, GD Johnson, H Telenius, Harold C. Riethman, Helen Donis-Keller, J Grouchy de, J Sambrook, J Wiegant, JG Dauwerse, JS Heslop-Harrison, JW IJdo, Michael R. Speicher, P Lichter, P Lichter, PM Nederlof, PM Nederlof, S Manoir du, Susanne Popp, T Ried, T Ried, T Ried, Thomas Cremer   +31 more
core   +1 more source

Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes

Case Reports in Genetics, 2012
We describe a familial pattern of gonosomal-autosomal translocation between the X and 18 chromosomes, balanced and unbalanced forms, in male and female siblings. The proposita was consulted for hypergonadotropic hypogonadism.
Attila Szvetko, Nicole Martin, Chris Joy, Andrea Hayward, Bob Watson, Andrew Cary, Stephen Withers   +6 more
doaj   +1 more source

Hsp90-binding immunophilins link p53 to dynein during p53 transport to the nucleus [PDF]

, 2004
The tumor suppressor protein p53 is known to be transported to the nucleus along microtubular tracks by cytoplasmic dynein. However, the connection between p53 and the dynein motor protein complex has not been established.
Galigniana, Mario Daniel, Harrell, Jennifer M., Ljungman, Mats, O´Hagen, Heather M., Pratt, William B.   +4 more
core   +1 more source

The establishment and application of preimplantation genetic haplotyping in embryo diagnosis for reciprocal and Robertsonian translocation carriers

BMC Medical Genomics, 2017
Background Preimplantation genetic diagnosis (PGD) is now widely used to select embryos free of chromosomal copy number variations (CNV) from chromosome balanced translocation carriers.
Shuo Zhang, Caixia Lei, Junping Wu, Jing Zhou, Haiyan Sun, Jing Fu, Yijuan Sun, Xiaoxi Sun, Daru Lu, Yueping Zhang   +9 more
doaj   +1 more source

Clearance of human papillomavirus related anal condylomas after oral and endorectal multistrain probiotic supplementation in an HIV positive male: A case report. [PDF]

, 2018
Go to: Introduction: Here we present the case of a 56-year-old human immunodeficiency virus (HIV)-infected man with multiple anal condylomas and positivity for human papilloma virus (HPV) 18 on anal brushing.
Bianchi, L, Cavallari, En, Ceccarelli, G, Ciardi, A, D'Ettorre, G, Pierangeli, A, Savinelli, S, Vullo, F   +7 more
core   +1 more source