Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early …
Sex chromosome trisomies (SCT), including Klinefelter syndrome/XXY, Trisomy X, and XYY
syndrome, occur in 1 of every 500 births. The past decades of research have resulted in a …
syndrome, occur in 1 of every 500 births. The past decades of research have resulted in a …
Noninvasive prenatal screening for fetal sex chromosome aneuploidies
C Deng, SW Cheung, H Liu - Expert Review of Molecular …, 2021 - Taylor & Francis
ABSTRACT Introduction Sex chromosome aneuploidies (SCAs) are among the most
common chromosome abnormalities observed in humans. Manifestations include low …
common chromosome abnormalities observed in humans. Manifestations include low …
An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure
J Summers, D Baribeau, P Perlman, N Hoang… - Journal of …, 2024 - Springer
Background A sizeable proportion of pathogenic genetic variants identified in young
children tested for congenital differences are associated with neurodevelopmental …
children tested for congenital differences are associated with neurodevelopmental …
Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?
R Reimers, F High, J Kremen… - Prenatal …, 2023 - Wiley Online Library
Sex chromosome aneuploidy (SCA) can be detected on prenatal diagnostic testing and cell
free DNA screening (cfDNA). High risk cfDNA results should be confirmed with diagnostic …
free DNA screening (cfDNA). High risk cfDNA results should be confirmed with diagnostic …
Clinical, cognitive and neurodevelopmental profile in tetrasomies and pentasomies: a systematic review
G Ricciardi, L Cammisa, R Bove, G Picchiotti… - Children, 2022 - mdpi.com
Background: Sex chromosome aneuploidies (SCAs) are a group of disorders characterised
by an abnormal number of sex chromosomes. Collective prevalence rate of SCAs is …
by an abnormal number of sex chromosomes. Collective prevalence rate of SCAs is …
The prevalence and patterns of chromosome abnormalities in newborns with major congenital anomalies: A retrospective study from Saudi Arabia
LM El-Attar, AA Bahashwan, AD Bakhsh… - Intractable & Rare …, 2021 - jstage.jst.go.jp
Congenital anomalies are a worldwide health problem that places a burden on the family
and society. Chromosome abnormalities are one of the leading causes for congenital …
and society. Chromosome abnormalities are one of the leading causes for congenital …
WES-based screening of 7,000 newborns: A pilot study in Russia
J Shubina, E Tolmacheva, D Maslennikov… - Human Genetics and …, 2024 - cell.com
The effective implementation of whole-exome sequencing-and whole-genome sequencing-
based diagnostics in the management of children affected with genetic diseases and the …
based diagnostics in the management of children affected with genetic diseases and the …
“Knowledge is Power”: parent views on the benefits of early diagnosis and awareness of sex chromosome multisomy among pediatric professionals
KA Riggan, B Gross, S Close, A Steinberg… - … of Developmental & …, 2023 - journals.lww.com
Objective: Pediatric diagnoses of sex chromosome multisomies (SCMs) have increased as
genetic testing has expanded. However, depending on SCM presentation, there may be …
genetic testing has expanded. However, depending on SCM presentation, there may be …
Supporting students with sex chromosome aneuploidies in educational settings: Results of a nationwide survey
Children with sex chromosome aneuploidies (SCAs) are at an increased risk for
neurocognitive and behavioral disorders that may interfere with academic success …
neurocognitive and behavioral disorders that may interfere with academic success …
Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling
C Jodarski, R Duncan, E Torres, R Gore… - Journal of Community …, 2023 - Springer
XYY syndrome is characterized by a variable neurodevelopmental phenotype, with features
including developmental delays, cognitive impairments, and an increased risk for mental …
including developmental delays, cognitive impairments, and an increased risk for mental …