research Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata
Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
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research Acromegaloidism With Normal Growth Hormone Secretion Associated With X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Case Report: Disorder of Sexual Development in a Chinese Crested Dog With XX/XY Leukocyte Chimerism and Mixed Cell Testicular Tumors
A female dog with mixed male and female traits was treated successfully with surgery.
research Recurrent Pregnancy Loss Associated with Cytogenetic and Genetic Anomalies: A Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: A Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
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