Abstract Simpson–Golabi–Behmel syndrome (SGBS) is a rare X‐linked multiple congenital
abnormality/intellectual disability syndrome characterized by pre‐and post‐natal …

Purpose: Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of
craniofacial development belonging to the heterogeneous group of mandibulofacial …

Cobblestone lissencephaly represents a peculiar brain malformation with characteristic
radiological anomalies, defined as cortical dysplasia combined with dysmyelination …

Congenital profound deafness has a known genetic origin in more than 50% of all cases.
The majority of the non syndromic hearing loss (NSHL) show an autosomal recessive …

Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of
kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia …

Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints
(BP) for 15q rearrangements. 15q11. 2 microdeletion between BP1 and BP2 has been …

Background Mutations in the GJB2 gene have been established as a major cause of
inherited non syndromic deafness in different populations. A high number of sequence …

Deletions at chromosome 2p25. 3 are associated with a syndrome consisting of intellectual
disability and obesity. The smallest region of overlap for deletions at 2p25. 3 contains PXDN …

Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia,
abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular …

We have systematically analyzed the two known minor genes involved in Usher syndrome
type 2, DFNB31 and GPR98, for mutations in a cohort of 31 patients not linked to USH2A …