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Results 401 - 450 of 765
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Soma H - - 2000
Recurrent non-immune hydrops fetalis has rarely been reported. In order to detect the risk of recurrence in a subsequent pregnancy, one should carefully consider the possibility of an inborn error of metabolism. In such cases, placental examination may be useful in detecting such metabolic storage disorders in the fetus, which ...
Kotzot D - - 2000
Uniparental disomy (UPD) is defined as the inheritance of both homologous chromosomes from only one parent. So far, maternal UPD 7 has been described in 28 cases. Here, we report 4 new cases, present clinical information of 5 cases previously reported by us, and review the clinical and molecular findings ...
Isaksen C V - - 2000
OBJECTIVE: Detection of congenital urinary system anomalies is an important part of the prenatal ultrasound examination. The present study compares prenatal ultrasonographic findings and postmortem examinations of fetuses and infants with renal and urinary tract anomalies. DESIGN: Criteria for inclusion were an ultrasound examination at the National Center for Fetal ...
Warmann S - - 2000
The authors report on a child with indifferent external genitalia consisting of severe micropenis with penile urethra leading to the tip of the glans and bilateral cryptorchidism. Diagnostic workup findings showed a female karyotype, homozygous 21-hydroxylase deficiency, and excessive testosterone exposure prenatally as a consequence of maternal pregnancy luteoma, altogether ...
Wallerstein R - - 2000
Karyotype-phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47,+13/46, 17/31 (54%) cases of 47,+18/46, 10/152 (6.5%) cases of 47,+20/46, and in 49/97 (50%) cases of ...
Chandran S - - 2000
A case of amniotic band syndrome (ABS) presenting with acalvaria is reported. ABS includes a spectrum of non-genetic anomalies, varying from simple digital band constriction to major craniofacial and visceral defects, and even fetal death. Acalvaria is a rare congenital malformation characterised by the absence of the dome-like superior portion ...
Gilhuis H J - - 2000
We report on an additional fourth case of Prader-Willi (PW)-like phenotype and an interstitial deletion of 6q. Despite sharing clinical characteristics, patients with a PW-like phenotype and a deletion of 6q, have features which distinguish them from Prader-Willi syndrome (PWS) patients. This case emphasizes the need to examine patients with ...
Granata P - - 2000
A new case of a de novo trisomy 10cen-->10pter is described. The karyotype was exactly defined by high resolution banding and FISH analysis; the chromosome aberration was of maternal meiotic origin as demonstrated by RFLP analysis. Clinical data are reported and correlated with other trisomy 10p cases from the literature. ...
Susser E S - - 2000
This paper describes the Prenatal Determinants of Schizophrenia (PDS) Study; three companion papers report the first results. The PDS Study was designed to study early antecedents of schizophrenia in a birth cohort of 1959-1967 for whom a wealth of archived prenatal data--including maternal sera--was available. Making use of the registries ...
Pilu G - - 1999
OBJECTIVE: To assess the clinical significance of fetal isolated borderline cerebral lateral ventriculomegaly defined as a width of the atrium of the lateral cerebral ventricles of 10-15 mm in the absence of other sonographically demonstrable malformations. DESIGN: Retrospective study of the outcome of fetuses with a sonographic diagnosis of isolated ...
Beverstock G C - - 1999
The occurrence of nasopharyngeal teratomas (NPT) is an infrequent event and prenatal detection of such tumors is even rarer. We present a case report and review of the literature (N = 78 cases), in which we describe the cytogenetic, DNA, and pathological findings of a fetus with a mature NPT ...
Wang M S - - 1999
Williams-Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and parental origin of deletion have been investigated for associations with clinical outcome. In an ...
Grindel S I - - 1999
Deletion in the long arm of chromosome 13 is relatively rare. Fewer than 100 cases are reported in the literature. Patients with 13q deletion have widely variable phenotypes. Hand anomalies, when present, include absent or hypoplastic thumbs, bony synostoses of the metacarpals, and brachyphalangy of the middle phalanx of the ...
Tongsong T - - 1999
PURPOSE: We examined the potential role of sonography in the prenatal diagnosis of the VATER association, a spectrum of fetal anomalies that includes vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia. METHODS: The sonographic findings in 4 fetuses with prenatal diagnoses of VATER association were prospectively recorded, ...
Woodrow N L - - 1999
We surveyed obstetricians who are members of the Australian Association of Obstetrical and Gynaecological Ultrasonologists for details of actions in which they had been asked to give an expert opinion between 1993 and 1998. We uncovered 50 cases, most of which involved missed fetal anomalies. Our findings suggest there is ...
Telvi L - - 1999
OBJECTIVES: There exist substantial differences between prenatally and postnatally diagnosed cases of 45,X/46,XY mosaicism. Ninety percent of prenatally diagnosed cases show a normal male phenotype, whereas the postnatally diagnosed cases show a wide spectrum of phenotypes. This 10% risk of an abnormal outcome in prenatally diagnosed cases requires further attention. ...
Holland A J - - 1999
OBJECTIVE: To determine the influence of antenatal ultrasound on the management of exomphalos. METHODS: Retrospective case note review of 23 fetuses and infants referred to our institution with either a pre- or postnatal diagnosis of exomphalos over a 7-year period. RESULTS: There were 21 cases of exomphalos of which 18 ...
Magalhães J A - - 1999
We report a case of prenatal diagnosis of a benign fetal skin tumor on the chin made at 27 weeks of pregnancy by ultrasound scan. We report this case given the uncommon diagnosis and the unique fetal facial profile seen on ultrasound, resembling the image of an ancient Egyptian pharaoh ...
Babinszki A - - 1999
Fetal haemolytic disease caused by irregular antibodies is discussed on the basis of three cases with maternal anti-c alone, one with anti-E along with anti-c, and one with anti-Fya sensitization. All fetuses suffering from maternal c-allo-immunization alone were treated with intra-uterine transfusions and the newborns received exchange transfusions. These interventions ...
Turner C D - - 1999
Alobar holoprosencephaly is an intracranial abnormality characterized by failure of proper cleavage of the prosencephalon, accompanied by incomplete midfacial development. The prenatal sonographic diagnosis of alobar holoprosencephaly was first described in 1984; however, there have been only two reports of alobar holoprosencephaly diagnosed in the first trimester. We report a ...
Stowe C D - - 1999
Down syndrome (DS) is a common cause of mental retardation resulting from trisomy 21. Previous reports have described altered pharmacokinetics and pharmacodynamics in patients with DS. The authors report six cases of infants (2-19 months) with DS who demonstrated altered theophylline pharmacokinetics. Clearance was prolonged in most of these patients. ...
Sepulveda W - - 1999
OBJECTIVE: To assess the clinical significance of umbilical cord pseudocysts detected prenatally by sonography. METHODS: The prenatal sonographic findings, karyotype, and perinatal outcome in 13 fetuses with umbilical cord pseudocysts were reviewed retrospectively. RESULTS: Umbilical cord pseudocysts were diagnosed at a median gestation of 27 weeks (range 15-37). Pseudocysts were ...
Lemyre E - - 1999
Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with different modes of presentation: ...
Fung T Y - - 1999
We report three cases of homozygous alpha-thalassemia (alphaTH) who survived beyond the neonatal period, all with hypospadias. A review of literature identified two additional male cases of homozygous alphaTH who survived, and both had hypospadias. The simultaneous occurrence of the two conditions seems beyond coincidence and may be causally related. ...
Ballesta F - - 1999
The parental origin and the meiotic stage of non-disjunction have been determined in 139 Down syndrome patients with regular trisomy 21 and in their parents through the analysis of DNA polymorphism. The meiotic error is maternal in 91.60% cases and paternal in 8.39% of cases. Of the maternal cases, 72.41% ...
Valenzano M - - 1999
We aimed to discuss the prenatal diagnosis and pathological features of sirenomelia, and to review current embryogenic theories. We observed two sirenomelic fetuses that were at the 19th and 16th gestational week respectively. In the former, transvaginal ultrasound revealed severe oligohydramnios and internal abortion, whereas bilateral renal agenesis, absence of ...
Engelen J J - - 1999
Characterization of a partial trisomy 16 q with FISH: Report of a patient and literature review: We report on a 28-year-old male patient with severe growth and mental retardation, severe behavioural problems, especially automutilation, and a spastic quadriplegia. He showed no specific dysmorphism. The karyotype was 46, XY, dir dup(16) ...
Cook L - - 1999
We describe a 4 month old male with a de novo interstitial deletion of chromosome 10q22. His clinical features included growth deficiency, developmental delay, ocular hypertelorism, posteriorly rotated ears, retrognathia, and fifth finger clinodactyly. He later developed dental lamina cysts of the alveolar ridge. To our knowledge, this is the ...
Buckley R H - - 1998
More than 300 cases of Angelman Syndrome (AS) have been reported. AS is still considered a clinical diagnosis because only approximately 80% of those individuals who meet the clinical criteria will have a maternal deletion of chromosome 15q11-13. Of the reported cases of AS, very few are of adults with ...
Oliver J W - - 1998
The idiopathic hypereosinophilic syndromes (HES) are rare hematologic disorders characterized by persistent eosinophilia with organ involvement that encompass a wide spectrum of clinical and hematological disease states. We propose a classification scheme to further delineate these patients, and present a case of a 45-year-old male with persistent eosinophilia, severe tissue ...
Kor-anantakul O - - 1998
A thalassemia screening program for pregnant women has been established in Songklanagarind Hospital since 1992. After genetic counseling, a total of 5078 pregnant women accepted entry into a screening program for thalassemia. Couples at risk who should receive prenatal diagnosis were 2.8%. Total cases who accepted prenatal diagnosis were 135. ...
Salim A - - 1998
Fetal tumors are sporadic entities and in some cases can be diagnosed prenatally. A team approach, incorporating the skills of obstetricians, radiation therapists, pediatric medical oncologists and hematologists, neonatal surgeons, rehabilitation specialists, and social workers, is imperative to ensure that the patient receives the best treatment. Retinoblastoma is a relatively ...
Faivre L - - 1998
The prenatal diagnosis of an 8p23.1 deletion is reported. The diagnosis was ascertained at 22 weeks of gestation because of the discovery of a diaphragmatic hernia at ultrasound. Following cytogenetic studies and counselling, the pregnancy was terminated. An autopsy confirmed the presence of a diaphragmatic hernia and revealed also the ...
Habecker-Green J G - - 1998
Prenatal diagnosis and clinical follow up of a patient with mosaicism for anomalies of chromosome 18 are reported. The fetus appeared on ultrasound to have multiple anomalies, including clubbed feet, abnormal hand positioning, edema of the scalp, cleft palate, and polyhydramnios. The karyotype on amniocytes was 47,XY,+i(18p). Postnatally, the peripheral ...
Lai W W - - 1998
Four cases of prenatally diagnosed abnormal persistence of an umbilical vein are presented. Of the 4 cases, 2 are in association with congenital heart disease, 2 are in the setting of abdominal visceral situs inversus, and 1 is with extrahepatic persistence of an umbilical vein. Whereas persistent right umbilical vein ...
Eubanks S R - - 1998
While the clinical features associated with full trisomy 13 have been well characterized, the clinical outcome associated with mosaic trisomy 13 is much less clear. The medical literature reports a broad range of possible clinical outcomes from severe mental retardation and birth defects to normal intelligence. There is no consensus ...
Rijhsinghani A - - 1998
OBJECTIVE: There are no studies to date on the implications and outcomes of antenatally detected isolated club foot. The purpose of this study was to perform a contemporary evaluation of club foot diagnosed in the antenatal period. DESIGN: We performed a retrospective analysis of all ultrasound examinations performed in 1989-96 ...
Muller F - - 1998
BACKGROUND: The potential of hyperechogenic fetal bowel to act as a hallmark for prenatal cystic fibrosis screening in the general population is controversial. METHODS: Our goal was to evaluate the incidence of cystic fibrosis in 209 fetuses with hyperechogenic bowel diagnosed at routine ultrasonography and with no family history of ...
Los F J - - 1998
In the population of children born after prenatal cytogenetic investigation in chorionic villi at our department from 1992 to 1995 (N = 3940), three are known to us with uniparental disomy. One case of maternal heterodisomy 16 was prenatally discovered because of trisomy 16 in direct chorionic villi with subsequently ...
Buiting K - - 1998
The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are caused by the loss of function of imprinted genes in proximal 15q. In approximately 2%-4% of patients, this loss of function is due to an imprinting defect. In some cases, the imprinting defect is the result of a parental imprint-switch ...
Stewart H - - 1998
The frequency of deletions within the survival motor neurone (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes in patients with spinal muscular atrophy (SMA), and the impact of this on the diagnosis and prenatal diagnosis of SMA, were investigated by molecular analysis of stored DNA and retrospective review of case ...
Anwar S - - 1998
Trisomy 8 mosaicism can present with a varied clinical picture. A significant number of cases have ocular manifestations. The most commonly reported in the literature have been corneal abnormalities and strabismus. We present a case of trisomy 8 mosaic syndrome with very different ophthalmic manifestations, some of which are previously ...
Murray S C - - 1998
STUDY OBJECTIVE: To report a case of XY gonadal dysgenesis in an adolescent with renal failure and to review the literature on this association. METHODS: In this case report from the Tertiary Care University Medical Center, a 16-year-old female with chronic renal failure presenting with primary amenorrhea was studied. Interventions ...
Zain H A - - 1998
OBJECTIVE: To determine if knowledge of neonatal outcome influences obstetricians' retrospective interpretation of fetal heart rate monitor tracings and opinion on the appropriateness of obstetric care. STUDY DESIGN: Ten obstetric case histories that involved a critical judgment by the managing obstetrician were selected for this study. Each case contained a ...
Matias A - - 1998
We report three cases of increased nuchal translucency at 12-13 weeks of gestation in three fetuses with trisomies 13, 18 and 21. All three fetuses were associated with anomalous venous return evaluated by Doppler ultrasonography. Complete pathological examination was performed following termination in each case. We suggest that alterations in ...
Dutly F - - 1998
In a recent study Bugge et al and Kotzot et al reported that isochromosomes 18p originate mainly from maternal meiosis II nondisjunction, followed by misdivision. In order to determine if there is a common mechanism for isochromosome formation, three cases with mosaicism for an additional isochromosome 12p and three cases ...
Pinette M G - - 1998
Trisomy 9 is a relatively rare chromosomal abnormality. There have been no reports of first trimester ultrasound findings associated with mosaic or nonmosaic trisomy 9 in the literature. A case of nonmosaic trisomy 9 diagnosed prenatally with ultrasound findings at 11.7 weeks gestation is presented along with associated abnormal ultrasound ...
Vasef M A - - 1998
OBJECTIVE: To describe the pathologic features of two cases of myelodysplastic syndrome associated with trisomy 14 and to summarize the relevant literature. RESULTS: In both cases, trisomy 14 was identified using conventional cytogenetic and fluorescence in situ hybridization methods. The patients were elderly men, 70 and 77 years old, who ...
Keck C - - 1998
Intracerebral aneurysms are rare. However they are potentially life-threatening. Today by means of ultrasound investigations these malformations can occasionally be identified prenatally. In these cases questions of intrauterine therapy, mode and time of delivery and postnatal treatment have to be discussed with the parents. We describe two cases with prenatal ...
Eggermann T - - 1998
A male newborn with severe congenital abnormalities is described with a de-novo translocation 16;21 resulting in trisomy 16q. Clinical features were consistent with trisomy 16q cases reported in the literature. Molecular analysis indicate a formation mechanism of the rearrangement restricted to postzygotic mitosis. Therefore, a low recurrence risk for the ...
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