نتایج جستجو برای: turner syndrome
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background : turner syndrome (ts) is a sporadic disorder caused by the absence of all or some parts one x-chromosome with major developmental consequences such as short stature and ovarian failure etc. the minor manifestations of ts are cubitus valgus, micrognatism, high-arched palate, short and/or webbed neck, hypothyroidism, etc. different karyotype abnormalities may lead to different clinica...
Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine...
The present study focuses on math and related skills among 32 girls with fragile X (n = 14) or Turner (n = 18) syndrome during late elementary school. Performance in each syndrome group was assessed relative to Full Scale IQ–matched comparison groups of girls from the general population (n = 32 and n = 89 for fragile X syndrome and Turner syndrome, respectively). Differences between girls with ...
BACKGROUND Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X inactivation. Haploinsufficiency of the SHOX gene has been reported to cause the short stature seen in Turner syndrome patients. More recently, mutations of this gene ha...
Turner Syndrome is one of the most common chromosomal aneuploidy seen in humans with an incidence of about 1: 2500 newborn females. Approximately 60% patients with Turner syndrome have 45, X karyotype while others show X chromosome abnormalities like deletions of long arm or short arm, isochromosome or ring chromosome. About 6-9% cases also show presence of Y chromosome or Y derived sequences. ...
Turner syndrome is associated with spatial and numerical cognitive impairments. We hypothesized that these nonverbal cognitive impairments result from limits in spatial and temporal processing, particularly as it affects attention. To examine spatiotemporal attention in girls with Turner syndrome versus typically developing controls, we used a multiple object tracking task during functional mag...
Turner syndrome is among the more common but less familiar syndromes that include sensorineural hearing loss and middle ear disease. This article provides a review of the syndrome, an illustrative case, and a review of specific issues relevant to audiologic management of patients with Turner syndrome.
INTRODUCTION Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. CASE PRESENTATION Here, we report a 4 ½ year-old female with classical 45,X Turner syn...
Turner syndrome, a congenital condition that affects ∼1/2,500 births, results from absence or structural alteration of the second sex chromosome. There has been substantial effort by numerous clinical and genetic research groups to delineate the clinical, pathophysiological, cytogenetic, and molecular features of this multisystem condition. Questions about the molecular-genetic and biological b...
BACKGROUND Multiple pituitary hormone deficiency and Turner syndrome have overlapping features in peripubertal girls and is a diagnostic challenge. CASE CHARACTERISTICS 16-year-old girl having Turner phenotype undergoing evaluation for severe short stature and pubertal arrest. OBSERVATION 45,X karyotype, and multiple pituitary hormone deficiency with empty sella. INTERVENTION Levothyroxin...
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