Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart Defects
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Cardiology"
DOI: 10.1007/s00246-018-1842-7
Abstract: Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac… read more here.
Keywords: copy number; cryptic chromosomal; number variants; congenital heart ... See more keywords
Chromosome analysis of blastocysts derived from single pronuclear zygotes by array CGH and clinical outcomes by the transfer of single pronuclear zygotes
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-020-01800-y
Abstract: This study aimed to explore the aneuploidy of blastocysts derived from single pronuclear (1PN) zygotes, almost 75% of which were regarded as diploid, using array CGH and examine the pregnancy outcomes. Embryonic aneuploidy screening of… read more here.
Keywords: blastocysts derived; pronuclear zygotes; 1pn zygotes; array cgh ... See more keywords
Phenotype in patients with intellectual disability and pathological results in array CGH.
Sign Up to like & getrecommendations! Published in 2017 at "Neurologia"
DOI: 10.1016/j.nrleng.2016.03.003
Abstract: Abstract Introduction Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing… read more here.
Keywords: pathological results; intellectual disability; results array; associated pathological ... See more keywords
24. PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDIES WITH NGS ON MINISEQ. A RELIABLE ALTERNATIVE FOR SMALL LABORATORIES
Sign Up to like & getrecommendations! Published in 2019 at "Reproductive BioMedicine Online"
DOI: 10.1016/j.rbmo.2019.04.077
Abstract: Introduction The demand for Preimplantation Genetic Testing for aneuploidy (PGT-A) used in IVF, is constantly increasing to improve pregnancy outcomes by transferring euploid embryos. The introduction of NGS has led to rapid transition of PGT-A… read more here.
Keywords: genetic testing; array cgh; preimplantation genetic; platform ... See more keywords
Are all Xq26.2 duplications overlapping GPC3 on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis?
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13151
Abstract: To the Editor: Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked multiple congenital anomalies (MCA) and overgrowth syndrome caused by a lossof-function of the glypican-3 gene (GPC3). Almost, a hundred distinct GPC3mutations have been identified, mostly large… read more here.
Keywords: analysis; gpc3; array cgh; duplication ... See more keywords
Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing
Sign Up to like & getrecommendations! Published in 2021 at "BMC Medical Genomics"
DOI: 10.1186/s12920-021-01119-2
Abstract: Background Coffin–Siris syndrome (CSS) is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hirsutism, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. CSS represents a small group… read more here.
Keywords: exome sequencing; cgh whole; coffin siris; siris syndrome ... See more keywords
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-019-0414-8
Abstract: BackgroundSmall Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to characterize the… read more here.
Keywords: clinical molecular; fish array; array; ssmc ... See more keywords
Autism and duplication of 17q12q21.2 by array-CGH: a case report
Sign Up to like & getrecommendations! Published in 2023 at "Revista Paulista de Pediatria"
DOI: 10.1590/1984-0462/2023/41/2021387
Abstract: ABSTRACT Objective: Autism spectrum disorder (ASD) affects cognitive development and social interaction on different levels. Genetic and environmental factors are associated with secondary ASD. Genetic inheritance is mainly polygenic, and 10% are copy number variations… read more here.
Keywords: autism; array cgh; duplication 17q12q21; case ... See more keywords
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
Sign Up to like & getrecommendations! Published in 2022 at "Life"
DOI: 10.3390/life13010020
Abstract: Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without… read more here.
Keywords: early prenatal; array cgh; prenatal diagnosis; coelomic fluid ... See more keywords
The Clinical Diagnostic Utility of Array CGH in Children with Syndromic Microcephaly
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_202_22
Abstract: Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH.… read more here.
Keywords: array cgh; array; etiology; syndromic microcephaly ... See more keywords