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Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations
PurposeJacobsen syndrome (JS) is a rare form of genetic disorder that was recently classified as a syndromic immunodeficiency. Available detailed...
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Human Genetics of Hypoplastic Left Heart Syndrome
Hypoplastic left heart syndrome (HLHS) is a severe congenital cardiovascular malformation characterized by hypoplasia of the left ventricleLeft...
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Vaginal CO2 laser therapy for genitourinary syndrome in breast cancer survivors—VagLaser study protocol: a randomized blinded, placebo-controlled trial
BackgroundVaginal CO 2 laser therapy is a new treatment option for genitourinary syndrome of menopause. Its potential is particularly interesting in...
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Sjögren’s syndrome
Sjögren’s syndrome (SS) is characterised as keratoconjunctivitis sicca (dry eyes), xerostomia (dry mouth) commonly associated with salivary gland...
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Molecular Pathways and Animal Models of Hypoplastic Left Heart Syndrome
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with underdevelopment of left-sided heart structures. While...
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Obstructive Sleep Apnea in Jacobsen Syndrome
PurposeMany congenital disorders are associated with an elevated risk of obstructive sleep apnea due to craniofacial abnormalities, hypotonia, and...
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Comparing 2D and 3D representations for face-based genetic syndrome diagnosis
Human genetic syndromes are often challenging to diagnose clinically. Facial phenotype is a key diagnostic indicator for hundreds of genetic...
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Ring Chromosome 11
Ring chromosome 11 (RC11) is a rare chromosomal abnormality with a limited number of cases reported in the literature thus far. Patients with RC11...
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A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases
Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for...
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Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes
Disorders of the long arm of chromosome 11 (11q) are rare and involve various chromosomal regions. Patients with 11q disorders, including Jacobsen...
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Ring Chromosome 9
Ring chromosome 9 (RC9) is a rare structural chromosome abnormality. Karyoty**, fluorescence in situ hybridization (FISH), chromosome microarray...
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Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle
Tetralogy of Fallot (TOF) and double-outlet right ventricle (DORV) are conotruncal defects resulting from disturbances of the second heart field and...
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Human Genetics of Ventricular Septal Defect
Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40% of all cardiac...
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Neural Crest
This chapter discusses the role of cardiac neural crest cells in the formation of the septum that divides the cardiac arterial pole into separate...
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Ring Chromosome 15
Ring chromosome 15 (RC15) can be detected using cell-based karyoty** and fluorescence in situ hybridization (FISH) test to determine its structure...
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Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
Anorectal malformations (ARM) represent a spectrum of rare malformations originating from a perturbated development of the embryonic hindgut....
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Numerical and Structural Chromosomal Abnormalities Associated with Immunodeficiency
AbstractRecurrent infections in children with chromosome anomalies are associated with some anatomical specificities in their upper respiratory tract...