Researchers led by UC Davis Health scientist Sanchita Bhatnagar have developed a promising gene therapy that could treat Rett syndrome. The therapy works on reactivating healthy but silent genes ...

The Peutz-Jeghers syndrome (PJS) is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous pigmentation, gastrointestinal polyps and the increased risk of multiple ...

Aneuploidies Aneuploidy is an abnormal number of chromosomes, and aneuploidies that most commonly survive to term include trisomy 21, 18, and 13 and sex chromosome aneuploidies such as Turner syndrome ...

Introduction Previous to molecular characterisation, there were very few case reports of interstitial deletion of 2q reported. 1 2 Recently, molecular cytogenetic techniques such as microarray ...

22q11.2 Deletion Syndrome What is 22q11.2DS? Professor Gillberg gives an overview of this genetic disorder causing developmental, physical, and mental health issues, requiring multidisciplinary care.

THREE different syndromes are reported to be caused by trisomy of the smaller autosomal chromosomes — mongolism, 18-trisomy syndrome and D1-trisomy syndrome. Everyone agrees that mongolism is ...

On the basis of SRM/SIS measurements, protein copy numbers were estimated for the Chromosome 18 (Chr 18) encoded proteins in the selected types of biological material. These values were compared with ...

Chromosome 18q deletion syndrome is a rare genetic disorder, affecting about 1 in 40,000 to 55,000 individuals. It results from the deletion of genetic material on the long arm of chromosome 18 ...

Researchers have revealed a novel association between chromosome 18q deletion syndrome and late-onset combined immunodeficiency (LOCID). Their finding challenges the previously held notion that ...

Abstract Four unrelated examples of partial deletion of the long arm of chromosome No. 18 have been briefly reported by us (Lancet ii: 641 [1966]). These patients have now been studied in detail.

Trisomy 18, also known as Edwards syndrome, is a chromosome disorder that often results in stillbirth or the early death of an infant.

Dr. Jannine Cody founded the Chromosome 18 Registry & Research Society that's helped her daughter and others born with the chromosome abnormality.