The Drosophila melanogaster P transposable element provides one of the best cases of horizontal transfer of a mobile DNA sequence in eukaryotes. Invasion of natural populations by the P element has led to a syndrome of phenotypes known as P-M hybrid dysgenesis that emerges when strains differing in their P element composition mate and produce offspring. Despite extensive research on many aspect...

Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although coexistence gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it still quite infrequent. To extent that authors searched, just one study reported association between Rokitansky sequence Dandy-Walker malformation. Clinical Prese...

objective: to report a case of long-term disease free and successful pregnancy after fertility sparing staging surgery with adjuvant chemotherapy in a 46,xy gonadal dysgenetic with malignant germ cell tumor. materials and methods: a case report from a university hospital about a 19-year-old female with 46,xy karyotype ( swyer syndrome). the patient underwent bilateral gonadectomy and staging wi...

purpose: to report a case of partial agenesis of the inferior rectus muscle in a child who was presented because of ocular misalignment and a deficient depression of the right eye. patient and findings: the patient was a 4-year-old girl. preoperative ct scans confirmed the clinical diagnosis of inferior rectus agenesis. the patient underwent augmented transposition of horizontal recti muscles w...

abstract how to cite this article: akhondian j, ashrafzadeh f, beiraghi toosi m, moazen n, mohammadpoor t, karimi r. joubert syndrome in three children in a family: a case series. iran j child neurol. 2013 winter: 7(1); 39-42.   joubert  syndrome  (js)  is  a  rare  autosomal  recessive  central  nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abn...

An 11-week human fetus with megacystis, prostatic dysgenesis, and lateral displacement of the abdominal muscles is described. We suggest that a subtle outflow obstruction of the very early bladder may give rise to both bladder dilation and bladder wall dysgenesis. The bladder dilation may produce abdominal muscle dysplasia or atrophy and almost certainly produces dilation of the prostatic ureth...

The pathophysiology of thyroid dysgenesis remains unclear and, until recently, this disorder was generally regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%) through the study of subjects with congenital hypothyroidism, and more recent work has revealed an even higher proportion of familial thyroid dysgenesis in both symptomatic and asy...

Adult height was compared between published cases of patients with XX gonadal dysgenesis (XXGD) and those with XY gonadal dysgenesis (XYGD). The mean adult height of XYGD patients (171.0 cm (SD 7.8), n = 27) was significantly greater than that of XXGD patients (164.4 cm (7.7), n = 27) (p less than 0.01). This finding supports the existence of a Y specific growth gene(s) which promotes statural ...