Anomalies of chromosome number and structure are considered to be the most frequent
cause of unexplained, non-syndromic developmental delay and mental retardation …

It is now becoming generally accepted that a significant amount of human genetic variation
is due to structural changes of the genome rather than to base-pair changes in the DNA. As …

Investigations of apparently balanced chromosomal rearrangements in patients with
abnormal phenotype by molecular cytogenetics tools, especially by array CGH, revealed a …

Over the past few decades, the knowledge on genetic defects causing mental retardation
has dramatically increased. In this review, we discuss the importance of balanced …

In an effort to discover genes important for human development, we have ascertained
patients with congenital anomalies and cytogenetically balanced chromosomal …

Array painting is a technique that uses microarray technology to rapidly map chromosome
translocation breakpoints. Previous methods to map translocation breakpoints have used …

We describe a patient with an abnormal phenotype and a de novo CCR consisting of a
reciprocal translocation between chromosomes 1 and 15 and an insertion of an interstitial …

Background Complex chromosomal rearrangements (CCR) are rare cytogenetic findings
that are difficult to karyotype by conventional cytogenetic analysis partially because of the …

We have investigated the chromosome abnormalities in a female patient exhibiting mild
nonsyndromic mental retardation. The patient carries a de novo balanced reciprocal …

Menkes disease (MD) is a rare and severe X-linked recessive disorder of copper
metabolism. The MD gene, ATP7A (ATPase Cu++ transporting alpha polypeptide), encodes …