1/626. True hermaphroditism associated with microphthalmia.A 4-year-old boy with an undescending left testis, penoscrotal hypospadia and bilateral microphthalmia was admitted to our hospital. Chromosome analysis revealed a karyotype of 46, XX del(x)(p2 2,31) and the sex-determining region of the y chromosome (SRY) was negative. The right testis was located in the scrotum and a left cystic ovary-like gonad, a salpinx and a unicorn uterus were found in the left inguinal canal. Histologically the gonad was an ovotestis in which primordial follicles covered infantile seminiferous tubules. Microphthalmia is observed in some congenital syndromes caused by interstitial deletion of the x chromosome. This case suggested that the short arm of the x chromosome was involved in the differentiation of the gonad. Very closely located follicles and infantile seminiferous tubules indicated that induction of meiosis in the fetus was controlled by the local microenvironment in follicles and seminiferous tubules, and not by the systemic hormonal condition.- - - - - - - - - - ranking = 1keywords = x (Clic here for more details about this article) |
2/626. 'Identical' twins with discordant karyotypes.A chromosomal abnormality in one of the fetuses of a monozygotic twin pregnancy is a rare phenomenon. In the prenatal unit of our cytogenetics laboratory we have recently come across two such heterokaryotypic twin pregnancies. In both cases ultrasound abnormalities were detected in one fetus of each twin pair. Chromosomal analysis showed that one twin pregnancy was discordant for trisomy 21 and the other for 45,X. Ultrasonographic examination suggested a monochorionic twin pregnancy in each case and dna studies confirmed that both sets of twins were monozygotic. Both pregnancies were terminated. Biopsies taken from different sites of the placentas showed chromosomal mosaicism in both cases. There was no clear correlation between the karyotype found close to the site of the umbilical cord insertion in the placenta and the karyotype of the fetus. Sampling of amniotic fluid from both sacs is recommended in diamniotic twin pregnancies if one (or both) of the fetuses has ultrasound abnormalities, even if the twins are apparently monochorionic.- - - - - - - - - - ranking = 0.33333333333333keywords = x (Clic here for more details about this article) |
3/626. XX-male syndrome bearing the sex-determining region Y.The case of a 25-year-old man who presented for evaluation of infertility is described. The physical examination revealed testicular atrophy without gynecomastia. Repeated seminal analyses showed azoospermia, and serum hormonal levels suggested a state of a hypergonadotropic hypogonadism. Chromosomal analysis demonstrated 46XX. polymerase chain reaction revealed the existence of a sex-determining region Y. The etiology of this rare sex reversal syndrome is discussed and cases reported in japan are reviewed.- - - - - - - - - - ranking = 2.6666666666667keywords = x (Clic here for more details about this article) |
4/626. Triple X female and Turner's syndrome offspring.A mentally retarded young female having 47 chromosomes with a triple X karotype produced a child with Turner's syndrome associated with mental defeciency. To our knowledge this is the first example of a triple X female giving birth to a child with Turner's syndrome.- - - - - - - - - - ranking = 0.33333333333333keywords = x (Clic here for more details about this article) |
5/626. prenatal diagnosis of 46,XX male fetuses.ultrasonography can accurately determine phenotypic sex differences from those of the genetic sex. Two cases were identified; they were the result of a translocation of the SRY gene from the y chromosome to the x chromosome during meiosis. An ultrasonographic difference may represent an otherwise unsuspected genetic abnormality.- - - - - - - - - - ranking = 0.66666666666667keywords = x (Clic here for more details about this article) |
6/626. Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature.Aarskog syndrome is a rare syndrome with a typical triad of facial, digital and genital characteristics. The characteristic cephalometric finding in this patient was the unusually large upward slant of SN plane and a steep Ba-N plane. Though the patient presented with a class I skeletal pattern, both the maxilla and mandible were hypoplastic and retruded with respect to the cranial base. Other characteristic features regarding the mandibular morphology were a large FMA (37 degrees) and Sn-GoGn (44 degrees) angles, a large gonial angle (138 degrees), an increase in total anterior facial and lower anterior facial height.- - - - - - - - - - ranking = 0.33333333333333keywords = x (Clic here for more details about this article) |
7/626. De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis.A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication in an abnormal female. We discuss the possibility of a maternal imprinting.- - - - - - - - - - ranking = 1.3333333333333keywords = x (Clic here for more details about this article) |
8/626. Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid.OBJECTIVES: The purpose of this study was to describe the clinical and molecular features of a large family with maternally inherited cardiomyopathy (MICM). BACKGROUND: Recently, several mitochondrial deoxyribonucleic acid (mtDNA) point mutations have been associated with MICM. However, the distinctive clinical and morphologic features of MICM are not fully appreciated. This is partially due to the small size of the reported pedigrees, often lacking detailed clinical and laboratory information. methods: Clinical and genetic analysis of the family was carried out. RESULTS: echocardiography showed mostly symmetrical hypertrophic cardiomyopathy in 10 family members. The illness had an unfavorable course. Progressive heart failure occurred in three subjects, who eventually died; one individual underwent heart transplantation. Electrocardiographic or echocardiographic signs of cardiac hypertrophy in the absence of significant clinical complaints were observed in five subjects. neurologic examination was normal. The mutation was detected in blood from all available subjects. Abundance of mutated molecules ranged between 13% and 100% of total mtDNA genomes. The severity of the disease could not be foreseen by the proportion of mutation in blood. CONCLUSIONS: This report contributes a better description of the clinical aspects of MICM and provides important clues to distinguish it from hypertrophic cardiomyopathy. We suggest that mtDNA mutations, particularly in the transfer ribonucleic acid for isoleucin, should be systematically searched in patients with MICM. The identification of an underlying maternally inherited mitochondrial dna defect in familial cases of cardiomyopathy may considerably influence the management and genetic counseling of affected patients.- - - - - - - - - - ranking = 2keywords = x (Clic here for more details about this article) |
9/626. risk of gonadoblastoma in female patients with y chromosome abnormalities and dysgenetic gonads.We report two female patients with gonadal dysgenesis and sex chromosome mosaicism involving the y chromosome. Conventional karyotyping was supplemented with fluorescent in situ hybridisation techniques in order to confirm the presence of Y chromosomes. One patient is a phenotypic female with karyotype 45,X/46,X,idic(Y)(q11.2). She underwent a laparoscopic gonadectomy at which streak ovaries without evidence of gonadoblastoma were removed. The second patient presented as a virilised female with karyotype 45,X/47,XYY. At laparoscopy, she was found to have mixed gonadal dysgenesis with a gonadoblastoma in situ. We recommend early gonadectomy in female children presenting with gonadal dysgenesis and the presence of a y chromosome although once the gonadoblastoma locus on y chromosome gene has been cloned it may be possible to identify those patients who have a low risk of developing gonadoblastoma.- - - - - - - - - - ranking = 0.66666666666667keywords = x (Clic here for more details about this article) |
10/626. Punctate epiphyses associated with turner syndrome.The radiographic observation of stippled calcification in cartilage defines the chondrodysplasia punctata group of bone dysplasias. Several other diseases may be associated with the radiographic finding of punctate epiphyses, usually uncommonly - for example, trisomy 21. Other more subtle chromosomal abnormalities also associated with punctate epiphyses include microdeletions of the x chromosome. A case of turner syndrome with punctate calcification of the epiphyses is described.- - - - - - - - - - ranking = 0.33333333333333keywords = x (Clic here for more details about this article) |
| | Next -> |