We describe two cases where clinical diagnoses were carried out (Rett syndrome-like and Nicolaides-Baraitser syndrome) with no identified mutation respectively in the CDKL5 and the SMARCA2 genes. Conversely a chromosomal microdeletion with contiguous deletion of a part of these two genes was found by arrayCGH in each corresponding case. The aim of this report is then to highlight the possible i...

The natural transmission of microdeletions of the Y chromosome is occasionally reported in the literature. Here we describe the natural transmission of a partial AZFb deletion over three generations. PCR amplification of several sequence tagged site markers in the three AZF regions of the Y chromosome was carried out in a patient with oligoasthenoteratozoospermia, his father and his naturally c...

Microdeletions in the AZFc region of the Y chromosome are found in oligo- and azoospermic men. These mutations were genetically lethal before the intracytoplasmic sperm injection (ICSI) era but they can nowadays be transmitted to next generations via ICSI. We have tried to answer the question, 'Does ICSI lead to a significant rise in the frequency of these microdeletions in future generations?'...

Y chromosome microdeletions can cause male infertility and are classified as natural transmission and de novo mutations. To examine the source of these deletions in Chinese men and to provide a theoretical and laboratory basis for genetic counseling, patients from Northeast China with primary male infertility (N = 22) and their fathers were investigated. Karyotype analysis was performed on peri...

Male infertility is considered to be a difficult-to-treat condition because it is not a single entity, but rather reflects a variety of different pathologic conditions, thus making it difficult to use a single treatment strategy. Structural alterations in the Y chromosome have been the principal factor responsible for male infertility. We examined 26 family members of 13 patients with male infe...

Pregnancy achieved with sperm from a patient with globozoospermia is rare, even after ICSI, since the activation of the oocyte may not occur in this disorder. Therefore, activation of the oocytes by piezoelectricity or calcium ionophores has been suggested, although spontaneous activation of the oocyte after ICSI has been reported in some cases. We report a successful pregnancy in a couple in w...

A genetic basis of infertility may exist in many men currently classified as having idiopathic infertility. Approximately 7% of infertile men harbour submicroscopic deletions of the Y chromosome that are not detectable on routine karyotype. Two candidate gene families, namely the RNA-binding motif-containing gene family, and the deleted-in-azoospermia gene family, have been cloned by deletion m...

objective: 22q11.2 chromosomal region is a hot spot for many cytogenetic rearrangements especially microdeletions which are responsible for digeorge and velocardiofacial syndromes. the most characteristic sign in these patients is congenital cardiac conotruncal anomalies. the gold standard diagnostic test for these microdeletions is fish (fluorescent in situ hybridization). however this diagnos...

OBJECTIVE For fetuses with a diagnosis of right aortic arch and normal cardiac anatomy, we aimed to establish the frequency of chromosomal anomaly diagnosed with single nucleotide polymorphism microarray analysis, particularly focusing on microduplications or microdeletions which would have gone undetected by conventional karyotyping and six-probe fish (13,18,21, X,Y, TUPLE). METHOD Retrospec...

Tetralogy of Fallot (TOF), (OMIM #187500) one the first known congenital heart disease (CHDs) with a rising frequency adult patients, is suitable paradigm for our analysis given expanding abundance genetic data available and these clinical consequences. Given complexity cardiac development, it has been associated untreated maternal diabetes, intake retinoic acid, phenylketonuria, chromosomal an...