The NONO gene encodes a nuclear protein involved in transcriptional regulation, RNA synthesis and DNA repair. Hemizygous loss-of function, de novo or maternally inherited variants have been associated with an X-linked syndromic intellectual developmental disorder-34 (OMIM # 300967), characterized by delay, disability, hypotonia, macrocephaly, elongated face, structural abnormalities of corpus c...

BACKGROUND Polybrominated diphenyl ethers (PBDEs) are widely used in Western countries. OBJECTIVES Because the prevalence of cryptorchidism appears to be increasing, we investigated whether exposure to PBDEs was associated with testicular maldescent. METHODS In a prospective Danish-Finnish study, 1997-2001, all boys were examined for cryptorchidism. We analyzed whole placentas (for 95 crypt...

Discussion on the role of DEHP in the critical period of gonadal development in pregnant rats (F0), studied the evolution of F1-F4 generation of inter-generational inheritance of cryptorchidism and the alteration of DNA methylation levels in testis. Pregnant SD rats were randomly divided into two groups: normal control group and DEHP experimental group. From pregnancy 7 d to 19 d, experimental ...

Congenital cystic adenomatoid malformation (CCAM) of the lung is an uncommon congenital anomaly, especially in young adults. This study reports an 18-yr-old male with CCAM involving the right upper lobe, who presented with a moderate spontaneous haemopneumothorax initially. The patient also had bilateral abdominal cryptorchidism which required surgical treatment earlier in childhood. The chest ...

The study of pathological conditions of the male reproductive system is paramount to understanding reproductive inefficiency in the Sahel goat. In this study, 1048 Sahel bucks presented for slaughter at the Maiduguri metropolitan abattoir were evaluated for the presence of various pathological abnormalities of the reproductive system. A total incidence of 15.08% was recorded for various patholo...

Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dila...

We report four sibs, two males and two females, with severe and early onset asymmetrical intrauterine growth retardation (IUGR) with a disproportionally large head and a fetal akinesia deformation sequence. Neuromuscular studies were normal in the four sibs. Variable acral malformations (bilateral cleft hand in one male, proximal syndactyly of the toes (right II-III; left II-III/IV-V) in the ot...

The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.1p22.2 in a three-year-old male child with autism who presented to the Sultan Qaboos University Hospital in Muscat, Oman, in January 2012. The patient was diagnosed with craniofacia...