نتایج جستجو برای: dysgenesis

تعداد نتایج: 2586  

Journal: :Journal of medical genetics 1983
J R Mann J J Corkery H J Fisher A H Cameron A Mayerová U Wolf A A Kennaugh V Woolley

Five phenotypic females in one family had the genotype 46,XY and all had gonadal germ cell tumours. Studies of the family pedigree suggest that this form of XY gonadal dysgenesis is inherited in an X linked recessive manner. G banding of elongated metaphase chromosomes from two subjects with XY gonadal dysgenesis and a female carrier showed no aberrations of the X chromosome. The titres of H-Y ...

A Ordookhani, F Azizi, P Mirmiran,

Introduction: To assess the relationship between parental consanguinity and permanent congenital hypothyroidism (PCH). Materials And Methods: From February 1998 to August 2002, cord dried blood spot samples, viz. only live births, in eight hospitals and a rural birth center in Tehran and Damavand were collected on Whatman BFC 180 filter papers. Samples with cord TSH  20 mU/L (two-site IRMA) ...

Journal: :Genetics 1986
G J Kocur E A Drier M J Simmons

Inbred wild strains of Drosophila melanogaster derived from the central and eastern United States were used to make dysgenic hybrids in the P-M system. These strains possessed P elements and the P cytotype, the condition that represses P element transposition. Their hybrids were studied for the mutability of the P element insertion mutation, snw, and for the incidence of gonadal dysgenesis (GD)...

Journal: :Endocrinologia japonica 1989
Y Okada T Ogihara

Cyclic replacement therapy using estrogen and progesterone was instituted in 28 patients with gonadal dysgenesis and 13 patients with hypopituitarism. When estriol was given at a dose of 2 mg per day, 10 patients (9 gonadal dysgenesis and 1 hypopituitarism) developed hyperreninemia and 3 of the 10 patients (all gonadal dysgenesis) were associated with hypertension. These side effects subsided w...

Journal: :The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1991
D D Cochrane K J Poskitt M G Norman

Cerebral dysgenesis encompasses varied disorders of brain development. Based on the understanding of these conditions provided by histopathologists, embryologists, radiologists and developmental pediatricians, surgeons are able to appropriately assist in the care of these patients. The surgeon can offer assessment of the ventriculomegaly that commonly accompanies cerebral dysgenesis in addition...

Journal: :World Journal of Surgical Oncology 2007
Nadereh Behtash Mojgan Karimi Zarchi

BACKGROUND Dysgerminoma is the most common malignant germ cell tumor of the ovary. This malignancy can be associated with pure gonadal dysgenesis or Swyer syndrome, mixed gonadal dysgenesis and partial gonadal dysgenesis. CASE PRESENTATION Dysgerminoma developed in 3 phenotypic female patients with 46 XY pure gonadal dysgenesis. All patients presented first with abdominopelvic mass. Laparatom...

Journal: :Genetics 1986
M C McElwain

The wings and abdomens of dysgenic and nondysgenic control flies were scored for the presence of clones of cells mutant for first and third chromosome markers. These exceptional clones can arise from mitotic recombination, de novo mutation or deletion, and P-M hybrid dysgenesis has been shown to increase the frequency of parallel processes occurring in germ-line cells. Particular attention was ...

Journal: :iranian journal of medical sciences 0
zahra razavi department of pediatrics, besat hospital, hamadan university of medical sciences, hamadan, iran hossein emad momtaz department of pediatrics, besat hospital, hamadan university of medical sciences, hamadan, iran

abstract chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. although x-autosome translocations are frequently associated with streak gonads and clinical features of the turner syndrome, the majority of x-autosome carriers may present with a variable phenotype, developmental delay, and recognizable x-linked syndrome...

Journal: :The Japanese Journal of Urology 1977

Journal: :reports of biochemistry and molecular biology 0
azadeh shojaei department of medical genetics and molecular biology, faculty of medicine, iran university of medical sciences, tehran, iran. reza ebrahimzadeh-vesal department of basic medical science, faculty of medicine, neyshabur university of medical sciences, neyshabur, iran. ali ahani mendel medical genetic laboratory, tehran, iran maryam razzaghy-azar : metabolic disorders research center, endocrinology and metabolism molecular-cellular sciences institute, iran university of medical sciences, tehran, iran; h. aliasghar hospital, iran university of medical sciences, tehran, iran. golnaz khakpour department of medical genetics, school of medicine, tehran university of medical sciences, tehran, iran. farideh ghazi tel: +98 21 88602209; fax: +98 21 88602209;

background: disorders of sex development (dsds) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,xy ...

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