Chromosomal aberrations seem to emerge as a cause of idiopathic oligo-athenoteratozoospermia. Ring Y chromosome – as one of these aberrationsthough rare, should be considered or excluded in cases of ambiguous genitalia, severe oligozoospermia, morphologic abnormalities and especially before Intra-Cytoplasmic Sperm Injection (ICSI) in suspicious cases. We report a 34 year old male patient, compl...

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 study a family with inner ear malformations and sensorineural hearing loss. DESIGN Clinical, radiological, and genetic study of the members of a family with different degrees of sensorineural hearing loss. RESULTS The males in the family manifested profound congenital hearing loss with severe inner ear malformations, while the only affected female had progressive hearing loss t...

Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depr...