29
Jul
Phelan-McDermid syndrome and new treatment medications
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Phelan-McDermid syndrome new treatments may improve some patients’ symptoms – more research necessary. Phelan-McDermid syndrome (PMS) is a disorder caused by deletions of the distal segment of 22q (22q13.3). The main factor in this condition is haploinsufficiency of the SHANK3 gene located at this segment. Mutations of this gene produce... Read More
29
Jul
10p12.1 deletion and the WAC gene
Chromosome 10p12.1 deletion and the affect of the WAC gene The short arm of chromosome 10 contains the WAC gene, located at 10p12.1. A loss of function of this gene causes DeSanto-Shinawi syndrome (DESSH) which is characterized by facial dysmorphism, global developmental delay and behavioral abnormalities. Patients with deletions... Read More
29
Jul
Deletions 6q26-q27 genotype phenotype correlations
Genotype phenotype correlations in deletions of chromosome 6q26-q27 The authors report on 8 patients with deletions of the distal segment of chromosome 6 (6q26-q27) and review 28 patients with deletions of this area from the literature. 29 patients (81%) had a terminal deletion 6q, 7 (19%) had interstitial deletions of... Read More
31
May
Tetrasomy 18p misdiagnosed as cerebral palsy
Tetrasomy 18p is a condition in which a patient has an additional isochromosome consisting of two copies of 18p. Virtually all patients with this condition demonstrate developmental delay, subtle dysmorphism and an abnormal muscle tone (especially spasticity). Many patients also have heart defects, abnormalities of the gastrointestinal tract or... Read More
18
Mar
Chromosome 20p deletion, mutation and the FOXA2 gene
Chromosome 20p deletion, mutation and the FOXA2 gene. The FOXA2 gene is important in the development of the pituitary gland. Development of the pituitary gland (PG) depends on a complex action of several transcription factors. Underdevelopment of the PG leads to growth delay, defects in metabolism, reproduction and other functions.... Read More
