Fluorescence in situ hybridization (FISH) is a macromolecule recognition technology based
on the complementary nature of DNA or DNA/RNA double strands. Selected DNA strands …

Highlights•Genetic and functional studies have provided important evidence pointing toward
a central role for dendritic spines on the pathogenesis of neuropsychiatric conditions.•Many …

Myopia is the most common eye disorder, caused by heterogeneous genetic and
environmental factors. Rare progressive and stationary inherited retinal disorders are often …

Background Congenital heart defects (CHD), as the most common congenital anomaly,
have been reported to be frequently associated with pathogenic copy number variants …

Intellectual disability is a common neurodevelopmental disorder characterized by impaired
intellectual and adaptive functioning. Both environmental insults and genetic defects …

Chromosome 4q deletion syndrome (4q‐syndrome) is a rare condition, with an estimated
incidence of 1 in 100,000. Although variable, the clinical spectrum commonly includes …

Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized
by congenital aplasia of the uterus and the upper part of the vagina in women showing …

Chien W‐H, Gau SS‐F, Wu Y‐Y, Huang Y‐S, Fang J‐S, Chen Y‐J, Soong W‐T, Chiu Y‐N,
Chen C‐H. Identification and molecular characterization of two novel chromosomal …

Background Terminal deletions of chromosome 4q are associated with a broad spectrum of
phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of …

Pierre Robin sequence (PRS) is an important craniofacial anomaly that can be seen as an
isolated finding or manifestation of multiple syndromes. 22q11. 2 deletion and Stickler …