Scott W. Stuart, MD, MS; Casey H. King, BA; G. Shashidar Pai, MD Such observations emphasize the importance of clarifying the origin of a genetic variation by studying the parents for comparison. The ...

A mother-of-four from Cradley Heath, near Birmingham, has spoken of her two-year-old daughter's diagnosis with an extremely rare disorder, discovered by chance during an unrelated hospital visit.

In most of the trillion cells that make up our bodies, 23 pairs of chromosomes store the vital strands of DNA needed to make our bodies grow and function properly. But if the amount of genetic ...

Findings appearing in NEJM also suggest different levels of impairment. A multinational group of investigators say that an aberration in a particular region of human chromosome 1q21.1 appears to be ...

Rare Chromosome Awareness Day, celebrated in June, is an opportunity to increase public knowledge about rare chromosome and gene disorders. These conditions can lead to various physical, developmental ...

In a recent study published in the Genes journal, researchers assessed the impact of PARK2 duplication or microdeletion on neurological diseases such as Parkinson's. The Parkinson's disease 2 (PARK2) ...

The cost of raising a child with a rare genetic disorder was significant but the economic burden could be reduced by earlier diagnosis and targeted treatment, a new study has found. The research, led ...

MECP2 Duplication Syndrome is a progressive neurological disorder due to a chromosomal anomaly. The chromosomal disorder was first reported in 2005 and involves duplication of the methyl CpG binding ...

Potocki-Lupski syndrome is a condition that results from having an extra copy of a small piece of chromosome 17 in each cell. A different condition, known as Smith-Magenis syndrome, results when a ...

The patient was a 7-year-old white boy who presented with a long history of a mixed receptive-expressive language disorder, fine motor impairment, attention deficit hyperactivity disorder (ADHD), ...