The DiGeorge Syndrome results from microdeletion in a small segment of the chromosome 22. When inherited from parents, it follows autosomal dominant patterns. There are variable clinical features related to the DiGeorge Syndrome. The most common ones are congenital heart diseases, thymic hypoplasia, learning difficulties, characteristic facial appearance, hypocalcaemia, and psychotic disorders ...

We describe a boy presenting with intellectual disability and dysmorphic features in whom a cryptic microdeletion in chromosome band 2q12.1 was identified with array CGH. The deletion results in a loss of the POU3F3 and MRPS9 genes. In this paper, we discuss the possible role of POU3F3 haploinsufficiency in relation to the boy's phenotype.

Paternal microdeletion of chromosome 15 at q11-q13 has been reported in 75% of Prader-Willi syndrome (PWS) patients in western countries. Diagnosis of PWS in Thailand is mainly based on clinical observation and, in some cases, confirmed by conventional cytogenetic analysis. Loss of a tiny segment in this region (microdeletion) has made it difficult to discriminate from the normal karyotype. An ...

During the last few years, microdeletions of the long arm of the Y chromosome, involving loci AZFa, AZFb, and AZFc, have been identified as a major cause of infertility, leading to the disruption of genes involved in spermatogenesis. These microdeletions are usually de novo mutations, but in six cases transmission from fertile fathers to infertile sons has been reported. In four cases, the tran...

OBJECTIVE To determine the prevalence of chromosomal abnormalities and microdeletions on Y chromosome in infertile patients with oligozoospermia or azoospermia in Mato Grosso state, Brazil. METHODS This cross-sectional study enrolled 94 men from infertile couples. Karyotype analysis was performed by lymphocyte culture technique. DNA from each sample was extracted using non-enzymatic method. M...

BACKGROUND A child with autism and mild microcephaly was found to have a de novo 3.3 Mb microdeletion on chromosome 1p34.2p34.3. The hypothesis is tested that this microdeletion contains one or more genes that underlie the autism phenotype in this child and in other children with autism spectrum disorders. METHODS To search for submicroscopic chromosomal rearrangements in the child, array com...

The long arm of the Y chromosome contains nonoverlapping regions termed azoospermia factor (AZF) with great influence on male fertility. Microdeletions at these regions minimise the males' ability to father offsprings. In this preliminary study, we attempted to screen the presence or absence of twenty Y chromosome's sequence-tagged sites (STS) associated with fertility in infertile and Down syn...