Results 161 to 170 of about 140,678 (408)

Swyer Syndrome: Clinical Case of Gonadal Dysgenesis in a 15-year-old Girl

open access: yesПедиатрическая фармакология
Swyer syndrome is a rare genetic disorder in which gonadal dysgenesis and karyotype 46, XY are observed. In the postnatal and prepubescent period, this disease has no clinical manifestations and is asymptomatic, which makes diagnosis difficult. The first
Irina V. Karachentsova   +7 more
doaj   +1 more source

Uncovering Proximity of Chromosome Territories using Classical Algebraic Statistics [PDF]

open access: yes, 2014
Exchange type chromosome aberrations (ETCAs) are rearrangements of the genome that occur when chromosomes break and the resulting fragments rejoin with other fragments from other chromosomes.
Arsuaga, Javier   +3 more
core  

Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Horseshoe lung is a rare congenital malformation in which the lungs are fused by a parenchymal isthmus. The current literature is very limited regarding cases of prenatal diagnosis and their outcome. Method We retrospectively examined three cases of fetuses with horseshoe lung diagnosed antenatally in our center from 2015 to 2024 ...
Benjamin Birene   +6 more
wiley   +1 more source

Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the clinical outcome of fetuses with ventriculomegaly (VM), and to identify risk factors for progression of fetal VM in order to improve prenatal counseling. This was a multicenter, retrospective cohort study, comprising 229 cases with VM.
Anouk Moens   +12 more
wiley   +1 more source

Chromosome aberration detection with hybridized DNA probes: digital image analysis and slit scan flow cytometry [PDF]

open access: yes, 1989
D Pinkel   +20 more
core   +1 more source

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