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A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia, and a positive screening test for congenital adrenal...
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A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia
Sex-chromosome discordant chimerism (XX/XY chimerism) is a rare chromosomal disorder in humans. We report a boy with ambiguous genitalia and...
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Expanding the phenotype of copy number variations involving NR0B1 (DAX1)
46,XY gonadal dysgenesis (GD) is a disorder of sex development due to incomplete gonadal differentiation into testes, resulting in female to...
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Ring Chromosome Y
Cases with ring chromosome Y (RCY) were detected using karyoty**, fluorescence in situ hybridization (FISH), Southern blotting, PCR analysis, and...
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Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns
Background and ObjectiveCongenital adrenal hyperplasia involves a series of autosomal recessive disorders where adrenal steroidogenesis is affected....
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Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7
Biallelic TOE1 variants can cause pontocerebellar hypoplasia type 7 (PCH7), a condition characterized by pontocerebellar hypoplasia with genital...
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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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Hypogonadism
Male hypogonadism (HG) is a clinical syndrome that results from impaired testicular functions, steroidogenesis and gametogenesis and is consequently...
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Ring Chromosome 13
Ring chromosome 13 (RC13) is detected using karyoty**, fluorescence in situ hybridization (FISH), and chromosome microarray analysis (CMA) to...
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Syndromic ciliopathy: a taiwanese single-center study
BackgroundSyndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual...
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Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report
BackgroundOrgan transplantations cause discrepancy in results from cell-free DNA (cfDNA) testing, but scientific literature is scarce.
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Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
Disorders of sex development (DSD) comprises a congenital condition in which chromosomal, gonadal, or anatomical sex development is atypical. In this...
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Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review
BackgroundUniparental disomy (UPD) is a rare genetic condition leading to potential disease risks. Maternal UPD of chromosome 6 upd(6)mat is...
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Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis
Deficiency of 11β-hydroxylase (11β-OHD) is the second most common cause of congenital adrenal hyperplasia (CAH), accounting for 0.2–8% of all cases....
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Inter-Tissue Gonosomal Mosaicism in Patients with Disorders of Sex Development, Associated with Abnormalities of Gonadal Differentiation
AbstractWe present results of the study to identify gonosomal mosaicism and examine its inter-tissue variability in peripheral blood lymphocytes,...
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Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the...
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Androgen and Oestrogen Signalling Pathways in Prostate Hyperplastic Tissues: Opportunities for Therapeutic Targeting from Multiple Angles
Benign prostatic hyperplasia (BPH), a non-malignant neoplasm in ageing men, is the most frequent cause of urinary flow obstructions at the bladder...
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Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review
BackgroundCopy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years,...
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Duplications
Indication for chromosome analysis: Increased rate of abortions.
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Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene
BackgroundPatients with deletions involving the long arm of chromosome 1 are rare. The PBX1 gene is located on chromosome 1q23.3. PBX1 encodes a...
