background: the sperm count and function may be affected by karyotype abnormalities or microdeletion in y chromosome. these genetic abnormalities can probably transmit to the children. objective: in this study, we tried to determine the frequency of karyotype abnormalities and y chromosome microdeletions in severe oligospermic or azoospermic men who fathered sons by icsi. materials and methods:...

Background: The Y chromosome microdeletion is one of the best-documented causes of male infertility but the factors responsible for Y chromosome microdeletions in spermatozoa remain unresolved. However, the environmental pollutants are known to damage DNA in differentiating and maturing germ cells in the male reproductive tract. In view of this, the objective of the present study was to explore...

Despite genetic evidence implicating MBD5 as the only overlapping gene between various 2q23.1 microdeletions, the function of MBD5 and its causality to 2q23.1 microdeletion syndrome, a disorder characterized by developmental delay and autistic features, has yet to be determined. In this issue of EMBO Molecular Medicine, Camarena et al generate an Mbd5 genetrap mouse model and show for the first...

1. Talkowski ME, Mullegama SV, Rosenfeld JA et al. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet 2011: 89: 551–563. 2. van Bon BW, Koolen DA, Brueton L et al. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet 2010: 18: 163–170. 3. Laget S...

We report on a patient carrying a 17q21.31 microdeletion and exhibiting many common syndrome features, together with other clinical signs which have rarely or never been described to date. The detected 695-kb 17q21.31 deletion is larger than in most previously reported cases but is still probably the result of recombination between flanking low-copy repeats. Due to the complexity of the patient...

Individuals with 22q11.2 microdeletions show behavioral and cognitive deficits and are at high risk of developing schizophrenia. We analyzed an engineered mouse strain carrying a chromosomal deficiency spanning a segment syntenic to the human 22q11.2 locus. We uncovered a previously unknown alteration in the biogenesis of microRNAs (miRNAs) and identified a subset of brain miRNAs affected by th...

Objective To develop a multiplex PCR protocol for routine screening of microdeletions on the Y chromosome Methods Five multiplex sets were established and Y chromosome microdeletions screening were carried out in 26 azoospermic men who undertook ICSI and 30 azoospermic men who undertook testicular biopsy. Results In 56 azoospermic men, 5 patients were found with AZFc/DAZ microdeletions, 2 patie...

background: about 15% of couples have infertility problems which 40% of them are related to the male factors. genetic factors are candidate for about 10% of male infertility conditions. among these, azfa, azfb, azfc and azfd regions on the yq are considered most important for spermatogenesis. microdeletions of these regions are thought to be involved in some cases of azoospermic or oligospermic...