The pulmonary hypoplasia and anasarca syndrome (PHA) is a congenital lethal disorder,
which until now has been reported in cattle and sheep. PHA is characterized by extensive …

Cancer pathogenesis involves multiple genetic and epigenetic alterations, which result in
oncogenic changes in gene expression. δ-Catenin (CTNND2) is overexpressed in cancer …

Background: There are few studies on the detection rate by chromosomal microarray
analysis (CMA) of the prenatal diagnosis of talipes equinovarus (TE) compared to …

Abstract Objectives Copy Number Variations (CNVs) in the human genome account for
common populational variations but can also be responsible for genetic syndromes …

Partial or complete trisomy 5p has been associated with characteristic facial features,
developmental delay, seizures, congenital heart defects, and respiratory compromise. We …

Only one X chromosome functions in diploid human cells irrespective of the sex of the
individual and the number of X chromosomes. Yet, as we show, more than one X is active in …

Chromosome 5p13 duplication syndrome (OMIM# 613174), a contiguous gene syndrome
involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM …

Recent developments in molecular cytogenetics allow the detection of genomic
rearrangements at an unprecedented level leading to discoveries of previously unknown …

In a male patient with developmental delay, autistic behaviour, obesity, lymphedema,
hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) …

Background Rearrangements involving chromosome 5p often result in two syndromes, Cri-
du-chat (CdC) and Trisomy 5p, caused by a deletion and duplication, respectively. The …