Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early …

N Tartaglia, S Howell, S Davis, K Kowal… - American Journal of …, 2020 - Wiley Online Library
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 …

Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47, XXX syndrome—a comparison with Turner syndrome and 46, XX females

MM Nielsen, C Trolle, S Vang… - American Journal of …, 2020 - Wiley Online Library
Abstract 47, XXX (triple X) and Turner syndrome (45, X) are sex chromosomal abnormalities
with detrimental effects on health with increased mortality and morbidity. In karyotypical …

Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child

KA Riggan, S Close, MA Allyse - American Journal of Medical …, 2020 - Wiley Online Library
The most common sex chromosome aneuploidies (SCA)(47, XXY; 47, XYY; 47, XXX)
frequently result in a milder phenotype than autosomal aneuploidies. Nevertheless, these …

Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy

HS Mountford, DVM Bishop… - American Journal of …, 2020 - Wiley Online Library
Sex chromosome trisomies (SCTs)(XXX, XXY, and XYY karyotypes) are associated with an
elevated risk of neurodevelopmental disorders. The range of severity of the phenotype is …

47, XXX 综合征的研究进展.

郭利丽, 丁建林, 贾静, 冯玲 - Journal of International …, 2020 - search.ebscohost.com
47, XXX 综合征是女性中最常见的性染色体非整倍体疾病, 表型多样且症状较轻,
缺乏普遍的生理, 心理异常特点, 有些女性甚至还可以有正常的月经周期和生育能力. 一直以来 …

Evaluating the scope of language impairments in a patient with triple X syndrome: a brief report

PC van Elst, M Otter, F Wijnen… - Developmental …, 2020 - Taylor & Francis
The phenotype of triple X syndrome comprises a variety of physical, psychiatric, and
cognitive features. Recent evidence suggests that patients are prone to severe language …

41,XXY* male mice: An animal model for Klinefelter syndrome

J Wistuba, C Beumer, R Brehm… - American Journal of …, 2020 - Wiley Online Library
Abstract Klinefelter syndrome (KS, 47, XXY) is the most frequent male chromosomal
aneuploidy resulting in a highly heterogeneous clinical phenotype associated with hormonal …

Adaptive functioning in children and adolescents with Trisomy X: an exploratory analysis

K Wigby, L Cordeiro, R Wilson… - American Journal of …, 2020 - Wiley Online Library
Identifying the factors related to adaptive functioning will improve the information available to
families and providers of females with Trisomy X. Cognitive and behavioral features were …

[HTML][HTML] The Y chromosome disomy syndrome (47, XYY) in children with mental retardation, deviations of sex development and different genome anomalies …

SG Vorsanova, IV Solovyev… - … i Pediatrii (Russian …, 2020 - ped-perinatology.ru
The article present the results of retrospectively analyzed children (4424 boys) with mental
and psychomotor retardation, congenital malformations and/or developmental micro …

[HTML][HTML] Синдром дисомии хромосомы Y (47, XYY) у детей с умственной отсталостью, нарушениями полового развития и различными аномалиями генома …

СГ Ворсанова, ИВ Соловьев… - Российский вестник …, 2020 - cyberleninka.ru
Представлены результаты ретроспективного анализа большой когорты исследуемых
детей (4424 мальчика) с умственной отсталостью или задержкой психоречевого …