Search Results
Results 451 - 500 of 770
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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 ...
Tennstedt C - - 1998
The findings of prenatal ultrasound diagnosis were compared with the autopsy findings in 183 fetuses (between the 14th and 24th week of gestation), aborted for fetal malformations in the period from 1995 to 1997. In these 183 cases, the primary diagnosis showed 50 central nervous system anomalies, 48 cardiovascular system ...
Ishii F - - 1997
We report a rare case of duplication for 7q22 --> 7qter and deletion for 7p22 --> 7pter, resulting from a meiotic recombination of a paternal pericentric inversion, inv(7)(p22q22). The newborn boy had the 7q trisomy syndrome. In addition, the diagnosis of chondrodysplasia punctata was made from lumbar and hand X-ray ...
Iravani M - - 1997
The multi tumor suppressor genes MTS1 (CDKN2 p16INK4A) and MTS2 (CDKN1, p15INK4B) located at 9p21-22 are inactivated in some human cancers via several mechanisms including deletion and hypermethylation. We have investigated the deletion and methylation status of MTS1 and MTS2 in childhood acute lymphoblastic leukemia (ALL) of both T-cell (17 ...
Fukada Y - - 1997
OBJECTIVE: The purpose of this study was to evaluate the prognosis of fetuses with transient nuchal translucency before 15 weeks of gestation. STUDY DESIGN: A nuchal translucency's measurement of > or = 5 mm was considered abnormal. In the period from 1994 to 1995, twelve fetuses were diagnosed at our ...
Qumsiyeh M B - - 1997
We present a database and a review of published literature on discrepancies in chorionic villus (CV) diagnostic findings. The review includes 457 cases of discrepancies between CV findings (direct, culture, or both) and the fetus. One hundred and one cases reported normal by CV direct harvest included 30 with abnormal ...
Kline R M - - 1997
Cytogenetic analysis performed on a 14-month-old boy with a primary retroperitoneal/paraspinal alveolar rhabdomyosarcoma showed the presence of a der(13)t(1;13)(q23;q32) resulting in partial trisomy of the 1q23-->qter region and loss of the 13q32-->qter region. The present case is discussed with reference to a similar case reported in the literature.
Bird L M - - 1997
An anencephalic infant with holoprosencephalic facies and ring chromosome 18 [r(18)] is reported with review of the pertinent literature. Although the association of anencephaly and holoprosencephalic facies is well established, this is the first instance of an accompanying karyotypic abnormality. Review of other r(18) cases suggests that this is not ...
Williams P G - - 1997
Fetal valproate syndrome (FVS) is characterized by minor craniofacial anomalies, major organ malformations, and developmental delay. We report on a patient who has a clinical phenotype compatible with both FVS and autism. The presence of an autistic disorder in a previously reported case of FVS and similar findings in our ...
Huang Y H - - 1997
Congenital cystic adenomatoid malformation of the lung (CCAML) is a rare pulmonary lesion, characterized by excessive overgrowth of the terminal respiratory bronchioles. Prenatal detection and serial sonographic study of fetuses with CCAML can provide information about the natural history of these lesions and reveal most of the nature history of ...
Kumar R - - 1997
We report on an 8-year-old boy with a proximal interstitial deletion of the long arm of chromosome 6 with breakpoints q13 to q14.2. He has a characteristic facial appearance that is seen in several of the previously described cases. Details of his clinical course are reviewed and compared with the ...
Liang R I - - 1997
We report here the earliest prenatal diagnosis to date of a case of ectopia cordis using both two-dimensional and three-dimensional ultrasound at 10 weeks of gestation. Both two-dimensional and three-dimensional ultrasound clearly revealed a thoracoabdominal ectopia cordis and an omphalocele. Histopathological examination confirmed the prenatal ultrasonic findings. In addition to ...
van der Stege J G - - 1997
Restrictive dermopathy is a lethal autosomal recessive skin disease. Prenatal diagnosis has not yet been reported. We present a case of restrictive demography and describe the associated prenatal sonographic findings. A continuously open mouth was the most striking feature and this sonographic finding may be a marker of a skin ...
Ohtsu K - - 1997
Several loci on the short arm of chromosome 1 (1p) have been reported as the consensus deleted regions for the putative suppressor genes of neuroblastoma by deletion mapping. The significance of deletion in 1p on the clinical features of neuroblastoma remains controversial. To clarify the relationship between the clinical features ...
Tovbin J - - 1997
Hepatic mesenchymal hamartoma is a benign tumor, defined as an excessive focal overgrowth of mature normal cells and stroma native to the liver. The increasing popularity of antenatal scanning has resulted in in utero diagnosis of congenital malformations and anomalies that previously became apparent only after delivery. Herein, we present ...
Tonk V S - - 1997
Tetrasomy 9p is a rare syndrome that has now been described in nearly a score of cases. We present a new case of i(9p) that presented to us early in infancy with significant dysmorphological features, including growth retardation, psycho-motor delay, hemifacial microsomia, auditory canal atresia, high-arched palate, bulbous nose, strabismus, ...
Toze C L - - 1997
Isolated gain of chromosome 14 (trisomy 14 or +14) has been reported in myeloid malignancy. Seven cases were identified by review of all diagnostic bone marrow specimens with cytogenetics performed at our institution from 1983 to 1995. Median age was older (72 years) and diagnosis was myelodysplasia in the majority ...
Fernández M S - - 1997
Four neonates with the uncommon Cantrell's pentalogy seen in our hospital within a 6-month period without any apparent factor in common are described, with a review of the world literature. The first case was diagnosed prenatally at 15 weeks' gestation, the earliest intrauterine finding in the literature. The occurrence of ...
Eugster E A - - 1997
We report on a 4-year-old girl with obesity and hyperphagia whose peripheral blood cytogenetic analysis showed mosaicism for a deletion of band 1p36.33. Terminal 1p deletions are rarely reported and this patient represents the first identified case of mosaicism. Given the subtlety of the cytogenetic abnormality and the possibility of ...
Ikegawa A - - 1997
OBJECTIVES: The purposes of this study were to make clear the amniotic sac detection rate, and to determine whether the detection of an amniotic sac can effectively predict miscarriage in the first trimester. STUDY DESIGN: This study included 169 normal pregnancy cases and 169 miscarriage cases. Both groups consisted of ...
Hansen W F - - 1997
We present a case of maternal uniparental heterodisomy for chromosome 2 (UPD 2) detected after trisomy 2 mosaicism was found on placental biopsy. This case presented prenatally with severe intrauterine growth restriction (IUGR) and oligohydramnios. The diploid newborn had hypospadias and features consistent with oligohydramnios sequence. He died shortly after ...
Criel A - - 1997
We analysed a group of 390 patients, diagnosed with chronic lymphocytic leukaemia (CLL). Cases were subclassified as morphologically typical and atypical CLL according to the criteria of the FAB proposal. Typical CLL cases were mostly diagnosed at a low-risk stage (Binet A/Rai 0), required no immediate treatment and expected a ...
Montague I - - 1997
A case is described in which intra-amniotic debris was identified during an ultrasound scan in a woman with polyhydramnios at 33 weeks' gestation. At delivery the neonate was found to have severe ichthyosis involving the whole of her head, trunk and limbs, with large plaques of hyperkeratotic skin on the ...
Stewart H S - - 1997
We report two unrelated patients with Asymmetric Crying Facies (ACF) and 22q11 deletion. In the first case ACF was the presenting feature. Fluorescent In Situ Hybridization (FISH) revealed 22q11 deletion and subsequent echocardiography demonstrated a normal cardiovascular system. The second presented with hypoparathyroidism, shown on FISH to be secondary to ...
Garcia-Marco J A - - 1997
The incidence of trisomy 12 and 13q12-q14 abnormalities in patients with chronic lymphocytic leukemia (CLL) was determined by conventional cytogenetics and interphase fluorescence in situ hybridization (FISH). In the analysis of 580 consecutive patients, trisomy 12 was detected by conventional cytogenetics in 39 cases (9%) and 117 cases (20%) by ...
Chan V - - 1997
The molecular defect in two unique cases of Hb H hydrops fetalis has been characterized. Both cases are due to co-inheritance of a 'non-deletion' defect affecting the alpha2 gene: at codon 30 delta GAG, Glu) and codon 59 (G --> A, Gly --> Asp) respectively, and a zeta-alpha thalassaemia (thal) ...
Kulharya A S - - 1997
We report a de novo trisom 6q22.2-->6qter and monosomy 1pter-->1p36.3 identified in amniocytes by GTG banding and FISH. While ultrasonography demonstrated malformations that did not suggest a specific chromosomal syndrome, a male infant with features consistent with trisomy 6q was born. He was followed up until 23 months, when he ...
Forouzan I - - 1997
Hydrops fetalis is a morbid condition caused by a wide variety of fetal, placental, and maternal diseases. Mortality is high and depends on the gestational age at the time of occurrence and underlying etiology. Although the condition was described more than 300 years ago, recent advances in obstetric ultrasound, prenatal ...
Descamps P - - 1997
OBJECTIVE: To develop an algorithm for the prenatal management of patients when a cystic hygroma is diagnosed by ultrasonography. METHODS: We report a personal series of 25 cases diagnosed between 10 and 23 weeks gestation and a review of the literature comprising a total of 999 cases. We focused on ...
Yardin C - - 1997
We report the case of a woman who carried two reciprocal translocations. Her karyotype was 46,XX,t(3;12)(q12;q21)(4;17)(p14;p13). She had two children, a phenotypically normal daughter (karyotype (46,XX,t(3;12)(q12;q21)) and a son with partial 4p trisomy (karyotype 46,XY,t(3;12) (q12;q21),-17,+maternal der(17)). She was pregnant with a female fetus who had the same karyotype as ...
Baergen R N - - 1997
We describe a case of a 19-year-old G1P0 woman with an unremarkable prenatal course who presented at term in labor. Fetal bradycardia developed and forceps were used to deliver a male infant, who was born with Apgar scores of 0 and 0 and could not be resuscitated. Examination at autopsy ...
Van Buggenhout G - - 1997
We report on a second trimester female fetus with 4q duplication (4q27-->4qter) and 18q deficiency (18q21.31-->qter) as the unbalanced product of a t(4;18)(q27;q21.31)mat. On fetopathological examination this fetus presented clinical features suggestive of the diagnosis of trisomy 18. A review is given of other reported patients with 4q duplication/18q deficiency.
Rego A - - 1997
Herein we present the case of a 12-year-old boy who attended our clinic for obesity and hyperphagia. As a newborn he was noted to have diffuse muscular hypotonia and poor sucking response. At the age of 11 years, he was admitted to hospital for respiratory insufficiency. He had personality disorders ...
Satge D - - 1996
A 22-year-old woman seeking medical assistance for hypofertility after two miscarriages had very slight anomalies: mild macrogenia and prognathism, and temporal depilation. Peripheral lymphocytes and fibroblastic karyotypes disclosed the tenth published case of low-level mosaicism for trisomy 18 with normal intelligence. Subfertility is frequently observed among these patients. As women ...
Levy-Mozziconacci A - - 1996
A case of false-negative discrepancy between results of chorionic villi (direct preparation) and those of fetal tissue with an isochromosome 18q [i(18q)] in amniotic cells and fetal blood is reported. Fluorescence in situ hybridization (FISH) confirmed this uncommon chromosomal rearrangement. The fetus showed cyclopia and multiple congenital anomalies which have ...
Arnold W H - - 1996
In three human fetuses with synophthalmic holoprosencephaly (8, 14, 23 weeks post conceptionem) the circle of Willis was studied using serial histological sections and computer aided three dimensional reconstruction methods. This structure was abnormal in all cases. In two cases the anterior communicating arteries were absent. In all cases the ...
Reis M J - - 1996
Maternal hypothermia can be correlated with persistent fetal bradycardia. The improvement of the maternal hypothermic state and the subsequent alleviation of fetal bradycardia are presented in two case reports. A possible consequence of unrelieved maternal hypothermia at delivery, neonatal cold stress, is discussed in a third case report. Neonatal complications ...
Tylki-Szymanska A - - 1996
A defect of lysosomal neuraminidase (sialidase N-acetyl-neuramine acid hydrolase EC 3.2.1.18) leads to a wide spectrum of phenotypes, the most severe of which is nephrosialidosis. A 4-year-old boy of related parents, born at term with hydrops fetalis, is reported. Hydrocephalus was detected at 2 months of age. The child's course ...
Vergani P - - 1996
OBJECTIVE: We reviewed our experience with six consecutive cases of fetal intracranial hemorrhage and the cases published in the English literature in an attempt to devise an original prognostic scoring system for antenatal intracranial hemorrhage. STUDY DESIGN: The series included the cases of fetal intracranial hemorrhage detected at our institution ...
Daly C A - - 1996
We present a case and review of the literature of an amniotic band causing malformation in the distal forearm in a baby born to a methadone-dependent mother. This diagnosis was made prenatally at the routine 18-20-week gestation anomaly ultrasound scan. Histology of the amniotic band postpartum revealed hair shafts within ...
Smith S R - - 1996
We report six cases of trisomy 15 in patients with hematological malignancy. In four cases trisomy 15 was the sole abnormality and in two cases it was associated with sex chromosome loss. The patient age range was 6-91 years, and three patients were male. Four patients had myelodysplasia (refractory anemia), ...
Shen O - - 1996
A persistent right umbilical vein is thought to be a rare anomaly, frequently associated with other life-threatening malformations. Eight cases of prenatal diagnosis of persistent right umbilical vein are presented. All cases were discovered on a routine second-trimester sonogram in an unselected population. Of the seven babies who were delivered, ...
Gordienko IYu - - 1996
We collected data on 39 prenatally diagnosed osteochondrodysplasias. We detected 30 (76.9%) cases in the first and second trimesters, including 18 (46.2%) with two twins before the 24th week of gestation. Of 39 cases 11 (28.2%) had osteogenesis imperfecta (OI) type II. Verification of the prenatal diagnosis was attempted in ...
Rauch A - - 1996
Two unpublished cases with partial tandem duplication of 12p and one previously published case were studied by fluorescence in situ hybridization using 11 cosmid DNA probes from 12p. We propose that the smallest duplications of 12(p13.2pter) and 12(p13.1p13.33) produce the "trisomy 12p syndrome" which is characterized by heavy birth weight, ...
Heydanus R - - 1996
Forty-four fetal abdominal wall defects, consisting of 31 omphalocoeles, 11 cases of gastroschisis, and two body stalk anomalies (which are excluded from further analysis), were diagnosed at 12-39 weeks (median 26 weeks) of gestation. In 10/31 (32 per cent) cases of omphalocoele and in 4/11 (36 per cent) cases of ...
Michaux L - - 1996
We report three cases of myeloid disorders with a dic(1;15)(p11;p11), resulting in trisomy of the long arm of chromosome 1. A review of the literature showed six cases, reported as t(1;15). We suggest that these cases have the same anomaly and should be reappraised as dic(1;15).
Phillips O P - - 1996
OBJECTIVE: Our purpose was to determine the risk of fetal mosaicism when placental mosaicism is found on chorionic villus sampling. STUDY DESIGN: We present a case of mosaic trisomy 22 detected on chorionic villus sampling and subsequently found in the fetus. A review of comprehensive chorionic villus sampling studies with ...
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