Background: Sex determining region Y box transcription factor 2 (SOX2) mutations lead to bilateral anophthalmia with autosomal dominant human inheritance. SOX2 could result in severe ocular phenotypes usually associated variable systemic defects. Most patients described syndrome possessed de novo this gene.
 Case Presentation: In case report, we describe brothers mental retardation and cau...

BACKGROUND A large percentage of in-vitro generated cleavage stage human embryos are chromosomally mosaic, consisting of both normal (diploid) and abnormal (non-diploid) cells. The present study characterized mosaicism at each stage of cleavage division and examined its effect on preimplantation development in vitro. METHODS A total of 216 normally fertilized (two-pronucleate) embryos which w...

The presence of 2 distinct populations of somatic or germline cells within a single individual harboring different genotypes is termed mosaicism. Recent reports suggest that parental mosaicism is involved in the heritability of type 1 Timothy syndrome (TS1), an extremely rare and life-threatening multisystem disorder characterized by severe QT interval prolongation, syndactyly, and several othe...

Studies of knockout (KO) mice with defects in the endolysosomal two-pore channels (TPCs) have shown TPCs to be involved pathophysiological processes, including heart and muscle function, metabolism, immunity, cancer, viral infection. With objective studying TPC2's roles for first time a large, more humanlike animal model, TPC2 KO pigs were produced using CRISPR-Cas9. A major problem CRISPR-Cas9...

Warkany syndrome 2 or Trisomy 8 mosaicism (T8M) is a well-described, but very rare, chromosomal abnormality. The phenotype is extremely variable ranging from normal individual to severe malformation syndrome and because of this variability, this condition often goes undiagnosed. We report trisomy 8 mosaicism (T8M) in a 3-year-old boy evaluated for facial dysmorphism and delayed development.

Recessive dystrophic epidermolysis bullosa (RDEB) is a cutaneous genetic disease, which characterized by the loss of functional type VII collagen. The epidermis becomes extremely fragile without collagen, and patients suffer from repetitive blistering scar formation. RDEB caused mutations in COL7A1 gene (coding collagen), most have two different on each gene. Interestingly, it known that part s...

Tetrasomy 9p is a rare clinical syndrome and about 30% of known cases exhibit chromosome mosaicism. The cases with tetrasomy 9p mosaicism have been reported to show the various phenotypes. On the other hand, Klinefelter syndrome is well recognized chromosomal abnormality caused by an additional X chromosome in males (47,XXY), and the characteristic clinical findings include tall stature, immatu...

OBJECTIVE To describe a case of young-onset Alzheimer disease (AD) due to mosaicism for trisomy 21. DESIGN Case report of a single patient. SETTING Tertiary referral dementia clinic. PATIENT A 55-year-old man with a mild degree of developmental delay but no previous diagnosis of Down syndrome and only minimal physical manifestations of Down syndrome presented with gradually progressive co...

Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X/46,XY mosaicism extends from Turner syndrome to mixed gonadal dysgenesis to normal males. The specific phenotype is primarily dependent on the chromosomal constitution of the developing gonad. Similar phenotypic variabil...

Congenital central hypoventilation syndrome (CCHS), a rare disorder characterized by alveolar hypoventilation and autonomic dysregulation, is caused by mutations in the PHOX2B gene. Most mutations occur de novo, but recent evidence suggests that up to 25% are inherited from asymptomatic parents with somatic mosaicism for these mutations. However, to date, germline mosaicism has not been reporte...