Results 81 to 90 of about 4,368 (158)

WIDENING THE SCOPE OF THE 15q13.3 MICRODUPLICATION SYNDROME. PATIENT REPORT AND GENOTYPE-PHENOTYPE CORRELATION.

, 2015
15q13.3 microduplication syndrome, genomic rearrangment, gentotype-phenotype ...
PICCIONE, Maria, Insinga, V., CORSELLO, Giovanni, PIRO, Ettore, Moceri, G., Ferrara, I., Ferrara, D., D’Anna, A., VECCHIO, Davide, Guarina, A., Fragapane, T.   +10 more
core  

Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present detection of de novo del(18)(q22.2) and a familial 15q13.2-q13.3 microduplication in a fetus with congenital heart defects (CHD). Case report: A 27-year-old, primigravid woman was referred for genetic counseling because of fetal CHD.
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Li-Feng Chen, Wayseen Wang   +7 more
doaj   +1 more source

A child with rare microduplication 5p13.2

, 2018
Introduction: A microduplication is a rare genetic condition which occurs when there is an extra piece of the chromosome, it is known as a chromosomal aberration. This can result in abnormalities in development, health and behaviour. The consequences may
Goguleva, Lili; Medical University of Varna, Stoyanova, Milena; Medical University of Varna, Voynova, Eleonora; Medical University of Varna, Angelova, Lyudmila; Medical University of Varna   +3 more
core   +1 more source

Dosage of copy number variation at 22q11.2 mediates changes in cognition, social function and brain structure in autism spectrum disorder

Journal of the Formosan Medical Association, 2016
Microdeletion at 22q11.2, a common copy number variation (CNV) noted in neurodevelopmental disorders, may be associated with cognitive impairment. However, cognitive function in individuals with microduplication remains unclear.
Hsin-I Chen, Yi-Ling Chien, Hsio-Mei Liao, Wei-Hsien Chien, Chia-Hsiang Chen, Yu-Chieh Chen, Susan Shur-Fen Gau   +6 more
doaj   +1 more source

Additional file 1 of A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review

, 2022
Additional file 1. Table S1: The bioinformatic quality index of Trio ES of the fetus and mother and Table S2: The 6.3 Mb microduplication on chromosome 20 was detected by Trio ES data of the fetus and ...
Salem Alawbathani (12163222), Xiaoxing Qu (12163219), Shiyi Xiong (5844731), Gang Zou (613635), Luming Sun (5844734), Guangquan Chen (7493930), Fengyu Wu (3794707)   +6 more
core   +1 more source

Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report

BMC Pediatrics
Background The MACF1 gene, found on chromosome 1p34.3, is vital for controlling cytoskeleton dynamics, cell movement, growth, and differentiation. It consists of 101 exons, spanning over 270 kb.
Lanlan Mi, Ruen Yao, Weiwei Guo, Jian Wang, Guoqing Zhang, Xiuxia Ye   +5 more
doaj   +1 more source

The minimum requirements for prenatal “confirmatory” diagnosis of fetal aneuploidy

Pregnancy, Volume 2, Issue 5, September 2026.
Jose Carlos Ferreira, Brynn Levy, Peter Benn   +2 more
wiley   +1 more source

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia

Behavioral and Brain Functions, 2008
Chromosome aberrations have long been studied in an effort to identify susceptibility genes for schizophrenia. Chromosome 22q11.2 microdeletion is associated with DiGeorge and Velocardiofacial syndromes (DG/VCF) and provides the most convincing evidence ...
Vallès Vicenç, Gabau Elisabeth, Guillamat Roser, Pelaez Trini, Armengol Lluís, Brunet Anna, Estivill Xavier, Guitart Miriam   +7 more
doaj   +1 more source

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment

, 2010
Bladder exstrophy is a congenital malformation of the bladder and urethra. The genetic basis of this malformation is unknown however it is well known that chromosomal aberrations can lead to defects in organ development.
Schoumans, Jacqueline, Lunden, Lina, Nordenskjold, Agneta, Kockum, Christina Clementson, Lackgren, Goran, Hammarsjo, Anna, White, Irene, Läckgren, Göran,, Clementson Kockum, Christina,, Clementson Kockum, Christina, Lund University., Lundin, Johanna, Soderhall, Cilla, White, I, Kockum, CC, Soderhall, C, Lundin, J,, Nordenskjold, A, Hammarsjo, A, Schoumans, J, Lackgren, G, Lunden, L, Iréne White, Lina Lundén, Christina Clementson Kockum, Anna Hammarsjö, Cilla Söderhäll, Johanna Lundin, Agneta Nordenskjöld, Göran Läckgren, Jacqueline Schoumans   +30 more
core   +1 more source

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.

, 2015
International audienceMicroduplication 22q11.2 is primarily characterized by a highly variable clinical phenotype, which ranges from apparently normal or slightly dysmorphic features (in the presence or absence of learning disorders) to severe ...
Vialard, François, Grati, Francesca Romana, Bessieres-Grattagliano, Bettina, Simoni, Giuseppe, Maurin, Marie-Laure, Tabet, Anne-Claude, Ayala, Gustavo, Jaillard, Sylvie, Benzacken, Brigitte, Dupont, Céline, Horelli-Kuitunen, Nina, Molina-Gomes, Denise, Beneteau, Claire, Coussement, Aurélie, Besseau-Ayasse, Justine, Toutain, Jérôme, Martínez-Conejero, Jose Antonio, Aboura, Azzedine, Choy, Kwong Wai   +18 more
core   +1 more source