We describe a novel Drosophila transcription unit, located in chromosome region 60A. It encodes a zinc finger protein that is expressed in distinct spatial and temporal patterns during embryogenesis. Its initial expression occurs in a stripe at the anterior and the posterior trunk boundary, respectively. The two stripes are activated and spatially controlled by gap-gene activities. The P-elemen...

The prune belly syndrome is a rare congenital anomaly which is characterized by the triad of an absent or a deficient development of the abdominal muscle, bilateral cryptorchidism and an anomalous urinary tract. In its full form, this condition occurs only in males. However, a similar condition occurs in females in the absence of cryptorchidism. On the other hand, the urorectal septum malformat...

The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. The diagnosis is confirmed by high 7- and secondarily 8-dehydrocholesterol levels in plasma and tissues and/or by detection of biallelic mutations in the DHCR7 gene. The phenotypic spectrum of SLOS is broad, ranging from a mild phenotype co...

BACKGROUND Common uterine anomalies are important owing to their impact on fertility, and complex mesonephric anomalies and certain Müllerian malformations are particularly important because they cause serious clinical symptoms and affect woman's quality of life, in addition to creating fertility problems. In these cases of complex female genital tract malformations, a correct diagnosis is esse...

the results of 10 year clinico - pathologic study about female genital tuberculosis in isfahan are reported. the main aims of this investigation were to study and review the tuberculosis of female genital tract to evaluate the influence of treatment and above all, to attempt to gain a better insight into the relation of infertility to this disease. in this study the following points have been t...

Androgens stimulate the development and growth of the male external genitalia. Because hypospadias is the most common congenital defect of the male urethra and because in most cases the cause of this malformation is unknown, we examined the hypothesis that the etiology of the severe forms of this disorder, which is frequently associated with other genital anomalies, might be explained by recept...

Neurofibromatosis type 1, also called Von Recklinghausen Disease is a genetic disorder characterized by the development of multiple benign tumors affecting skin and nervous system. It disease with prevalence one case in 3000 births. The cause VRD mutation [1-4]. In half all cases NF1, faulty gene passed from parent to their child. Clitoromegaly presenting childhood can be congenital or acquired...