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Causes of Hospitalization in Children with Down Syndrome.
Medicina (Kaunas)
September 2024
Department of Pediatrics, Botucatu Medical School, São Paulo State University (UNESP), Botucatu 18618-000, São Paulo, Brazil.
: Down syndrome (DS) is the most common chromosomal disorder in the world. It is caused by the imbalance of the chromosomal constitution of 21 by free trisomy, translocation or mosaicism. Children and adolescents with Down syndrome have immune dysregulation and are more susceptible to infections.
View Article and Find Full Text PDFGenetic Etiology of Primary Premature Ovarian Insufficiency.
Acta Clin Croat
December 2016
University Department of Endocrinology, Clinical Center of Serbia, Belgrade, Serbia
Primary premature ovarian insufficiency (PPOI) is characterized by hypergonadotropic amenorrhea and hypoestrogenism in women under 40 years of age. PPOI incidence is 1:10,000 in women aged 18-25, 1:1000 in women aged 25-30 and 1:100 in women aged 35-40. In 10%-28% of cases, PPOI causes primary and in 4%-18% secondary amenorrhea.
View Article and Find Full Text PDFCharcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.
Clin Genet
November 1998
Department of Neurology, The University of Alabama at Birmingham, USA.
The Charcot-Marie-Tooth disease type 1A (CMT1A) phenotype is most often associated with a 1.5 megabase (mb), tandem duplication of chromosome 17 band p12 (17p12). The prevailing hypothesis is that the demyelinating neuropathy results from a dosage effect of the peripheral myelin protein gene PMP22 which is included within this duplication.
View Article and Find Full Text PDFExcept for atypical eye findings in the daughter, a mother and daughter with bisatellited marker chromosomes had abnormalities consistent with cat-eye syndrome. The mother's marker chromosome (mar number 1) is derived from one 22 and another acrocentric, possibly also a 22; the daughter's marker (mar number 2) may be an iso-dicentric, inv-dup (22) derivative of mar number 1. The mother has a tertiary trisomy translocation chromosome composed of at least one and perhaps two copies of 22pter----q11.
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