Background Turner's syndrome is associated with either monosomy or a wide spectrum of
structural rearrangements of chromosome X. Despite the interest in studying (somatic) …

Despite numerous clinical series, consistent karyotype-phenotype correlations for Turner
syndrome have not been established, although a lower level of 45, X is generally thought to …

Turner syndrome (TS) is a chronic disease related to haploinsufficiency of genes that are
normally expressed in both X chromosomes in patients with female phenotype that is …

Abstract Oligophrenin-1 (OPHN1) is one of at least seven genes located on chromosome X
that take part in Rho GTPase-dependent signaling pathways involved in X-linked intellectual …

X-chromosome inactivation occurs randomly in normal female cells. However, the
inactivation can be skewed in patients with alterations in X-chromosome. In balanced X …

OBJETIVOS: descrever a experiência no diagnóstico da Síndrome de Turner (ST),
focalizando a distribuição dos cromossomos, a idade, os sinais e sintomas característicos …

Abstract Background Fragile X syndrome (FXS) is the most common form of inherited
intellectual disability (ID). Together with fragile X-associated tremor and ataxia (FXTAS) and …

Анализ кариотипов Apodemus peninsulae (n= 355) из 41 точки отлова Дальнего Востока
России поr зволил выявить Вrхромосомы у 87.9% животных, из них 61.7 …

In females carrying structural rearrangements of an X‐chromosome, cells with the best
dosage balance are preferentially selected, frequently resulting in a skewed inactivation …

A karyotype analysis of the Apodemus peninsulae (n= 355) from 41 trapping points from the
Russian Far East has allowed us to identify B chromosomes in 87.9% of the animals, 61.7 …