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Results 351 - 400 of 769
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Gérard-Blanluet Marion - - 2002
The main features of trisomy 9 syndrome in mosaic and non-mosaic forms have been thoroughly described. Characteristic traits are low-set malformed ears, micrognathia, broad nose with bulbous tip, abnormal brain, congenital heart defects, abnormal hands and feet, genital abnormalities, and early death. We report a case of mosaic trisomy 9 ...
Lam Y H - - 2002
Anorectal atresia results from abnormal development of the anorectal septum. Prenatal diagnosis is difficult but the condition may be suspected by the sonographic demonstration of a dilated colon. We present the sonographic features of a fetus with anal atresia and a ventricular septal defect at 12 weeks of gestation. This ...
Jyothy A - - 2002
Cytogenetic investigations carried out on 1021 cases of Down syndrome revealed translocation in 46 cases. The most frequent was of t(14;21) and t(21;21) types. Most of the translocation DS cases (n = 31) were born to younger mothers (< 25 years), when compared to pure trisomy 21 DS cases. Parental ...
Machlitt A - - 2002
We report on a 16-week fetus, in which detection of increased nuchal translucency thickness and bilateral intracardiac echogenic foci led to the prenatal diagnosis of truncus arteriosus communis, interruption of the aortic arch and aplastic thymus. Cytogenetic examination confirmed a 22q11.2 microdeletion consistent with the suspected CATCH 22 syndrome. Subsequently ...
Meizner I - - 2002
OBJECTIVE: To describe a unique sonographic sign for prenatal detection of severe penoscrotal hypospadias. METHODS: Ultrasound findings of hypospadias diagnosed in the second trimester of pregnancy in seven patients were compared with postnatal clinical features. All patients were recruited from routine sonographic examinations performed for various obstetric indications. RESULTS: In ...
Rashid Sabrina Q - - 2002
A total of 5,841 obstetric patients were scanned over a period of 34 months. This study was undertaken to establish the anomalies that can be detected by ultrasound and to find out their relative frequencies in Bangladesh. Of the 41 cases of congenital anomalies, seven cases were of hydrocephalus, seven ...
Nield Lynne E - - 2002
BACKGROUND: Maternal anti-Ro and anti-La antibodies are associated with congenital heart block (CHB). Although endocardial fibroelastosis (EFE) has been described in isolated cases of autoantibody-mediated CHB, the natural history and pathogenesis of this disease are poorly understood. METHODS AND RESULTS: We retrospectively reviewed the clinical history, echocardiography, and pathology of ...
Giardino D - - 2002
First described in 1971, partial trisomy 6p is uncommon and generally secondary to a familial reciprocal translocation. The proximal breakpoint of the reported cases varies from p11 to p25. We here report on a patient with moderate mental retardation, craniofacial and pigmentary anomalies, proteinuria, and hyperglycemia who was found to ...
Driggers R W - - 2002
Neu-Laxova is a rare, uniformly lethal, autosomal recessive condition with characteristic limb posturing, facial dysmorphic features, and central nervous system abnormalities. Forty-two cases of Neu-Laxova syndrome have been reported, with only four of these diagnosed prenatally. Three of the four cases were diagnosed at or after 32 weeks' gestation. The ...
Ramin K D - - 2002
OBJECTIVE: To evaluate the incidence and chronology of sonographic markers of neurological compromise in prenatally diagnosed neural tube defects. METHODS: We reviewed our ultrasound database from 1988 to 1999 to identify all cases of prenatally diagnosed neural tube defects. All patients received an initial detailed targeted ultrasound evaluation with subsequent ...
McGowan Kathryn D - - 2002
We report the finding of paternal isodisomy for chromosome 14 in a fetus found to have a der(14;14)(q10;q10) by amniocentesis. The pregnancy was complicated by severe polyhydramnios and elevated amniotic fluid alpha-fetoprotein (AFP). The infant showed features consistent with paternal uniparental disomy (UPD) including postnatal growth retardation, poor respiratory function, ...
Stevens G H - - 2002
Large fetal neck masses can cause airway obstructions with potential fetal demise after delivery. The relationship of the neck mass to airway structures can be defined prenatally with ultrasound and magnetic resonance imaging (MRI). The ex utero intrapartum treatment (EXIT) procedure can be used to obtain a fetal airway while ...
Killeen Orla G - - 2002
We report a female infant of 42 weeks gestation with a left sided diaphragmatic hernia and a hypoplastic left heart. A true double vagina, absent uterus and abnormal male gonads were found in the presence of normal external female genitalia. Conventional G band karyotyping of skin samples revealed a normal ...
Blaas H G K - - 2002
OBJECTIVE: To investigate the prenatal appearance of the holoprosencephaly spectrum. METHODS: A database of 1750 fetuses with congenital anomalies identified by ultrasound was prospectively collected from 1987 to 2000. Among them, 30 cases (1.7%) with holoprosencephaly were prenatally identified and described. RESULTS: The prevalence of holoprosencephaly in the Health Region ...
Addor M C - - 2002
A female newborn is reported with dextrocardia and a partial trisomy 20q, derived from a t(2;20) paternal translocation. The most discriminating findings of the condition include brachycephaly, bulging forehead, deep set eyes, short nose, large ears, dimpled chin, short neck and a heart defect. Previously reported patients with this rare ...
Udayakumar A M - - 2002
Cytogenetic analyses of fine-needle aspiration samples were performed on five cases of which three were alveolar rhabdomyosarcomas (RMS), one was embryonal RMS and one was RMS of mixed alveolar and embryonal histology. Three cases of alveolar RMS and one case of embryonal RMS showed t(2;13). A del(1)(p11) in a mixed ...
Cuneo Antonio - - 2002
Chromosome 11q22.3-23.1 deletions involving the ataxia-teleangiectasia mutated (ATM) locus (11q-/ATM+/-) are detected at diagnosis in 10-20% of cases of B-cell chronic lymphocytic leukemia (CLL) and are associated with a relatively aggressive disease. The aim of this study was to ascertain whether 11q-/ATM+/- may appear late during the course of the ...
Steinberg Warren N - - 2001
A case of prenatally diagnosed non-mosaic trisomy 20 in cells cultured from a chorionic villus sample (CVS)is presented. The term placental karyotype was also non-mosaic trisomy 20. The karyotype of the newborn was 46,XY/47,XY,+20 in foreskin cultures and in a second skin culture; blood lymphocyte culture was 46,XY. Aside from ...
Elleder M - - 2001
Autopsy findings are described of six cases (from four families) of neonatal hemochromatosis, a defect featured by severe prenatal iron storage in the liver and in a number of visceral organs similarly as in the hereditary adult-type hemochromatosis. Genetically, the two disorders are different, however. All the cases showed a ...
Sherer D M - - 2001
We present transvaginal ultrasonographic findings of a fetus with Dandy-Walker malformation and associated massive obstructive hydrocephalus at 13 weeks' gestation. First-trimester ultrasonographic diagnosis of Dandy-Walker malformation is uncommon with only two such occurrences having been reported previously. These cases and recent reports of single gene transmission of this condition in ...
Mouriquand P D - - 2001
Upper tract dilatation presenting as renal pelvis dilatation with or without ureteric dilatation is one of the more common abnormalities detected on prenatal ultrasound scanning. The majority of cases are due to pelvi-ureteric and vesico-ureteric junction anomalies, and vesico-ureteric reflux. Prenatal diagnosis with ultrasound may be aided by biochemical analysis ...
Carroll S G - - 2001
OBJECTIVES: To examine the association between fetal talipes and other defects, and outcome in relation to postnatal surgery. METHODS: All cases of talipes presenting to the fetal medicine unit between 1993 and 1998 and cases of isolated talipes presenting to the ultrasound department between 1991 and 1998 were examined. The ...
Morin G - - 2001
Ultrasonography in a female fetus revealed cystic cervical hygroma, severe micrognathia, and vertebral and upper limb anomalies suggestive of cerebro-costo-mandibular syndrome (CCMS) which was diagnosed ultrasonographically at 16 weeks' gestation. The father is affected and presents with a Pierre Robin sequence, short stature and typical costovertebral anomalies. CCMS is a ...
Oztunç F - - 2001
A case of situs inversus totalis and transposition of the great arteries (TGA) was diagnosed prenatally at 25 weeks' gestation. Postnatal echocardiographic examination confirmed the antenatal findings. This case underscores the importance of recognizing situs abnormalities during obstetric and fetal echocardiographic examination, as they are often associated with cardiac anomalies. ...
Becker R - - 2001
CHARGE association has been diagnosed postnatally in increasing numbers since the first description in 1979. The acronym CHARGE includes the abnormalities ocular Colobomas (iris, retina or nervus opticus), Heart disease, Atresia of choanae, Retarded growth and development and/or central nervous system anomalies, Genital hypoplasia, Ear anomalies and deafness. So far, ...
Balci S - - 2001
Iniencephaly is a rare and lethal congenital malformation of the neural tube characterized by occipital bone defect, cervical dysraphism, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine. The etiology is unknown. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is ...
Babu R - - 2001
The prenatal sonographic features of congenital lobar emphysema (CLE) have not been well characterised. Five cases have been reported in the literature and on all these occasions either an echogenic (3) or a cystic (2) lung lesion was detected prenatally and the diagnosis was confirmed after the operation. This is ...
Ismail K M - - 2001
OBJECTIVES: To identify the etiology and pregnancy outcome of hydrops fetalis in a cohort of pregnancies referred to a tertiary maternal fetal medicine center in the UK. These data allow the review of a large series of pregnancies affected by hydrops fetalis and emphasize the importance of investigation and then ...
Pettenati M J - - 2001
The prenatal diagnosis of a complete trisomy of the long arm of chromosome 1 is reported. Major ultrasound findings included: nuchal thickening, bi-temporal narrowing, a single choroid plexus cyst, and mild ventriculomegaly. There was a mass in the chest and abdomen, pleural effusion, ascites and a hyperechoic bowel. Skin edema ...
Kashimura Y - - 2001
Complete hydatidiform mole and coexistent fetus (CMCF) is a rare occurrence and is associated with an increased risk of persistent gestational trophoblastic diseases. The aim of this study was to reveal a potential risk factor and to determine optimum management of CMCF cases. Molar tissues are cytogenetically divided into two ...
Bassez G - - 2001
Prenatal thrombocytopenia is a rare event and is generally due to fetal infection. In very rare cases, fetal thrombocytopenia is induced by maternal IgG directed against the fetal platelets. This alloimmunisation could lead to in utero bleeding. We now report such a case, in which fetal thrombocytopenia was complicated by ...
Stoll C - - 2001
Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by ...
Mazneikova V - - 2001
Perineal ectopia testis is a rare congenital anomaly with incidence of < 1% of all cases of undescended testes. We report a case of perineal ectopic testis detected by ultrasound at 38 weeks gestational age presenting as an oval echogenic structure located beneath the male fetal genitals. The diagnosis was ...
Baty B J - - 2001
The prenatal diagnosis of trisomy 20 mosaicism presents a challenge for practitioners and parents. The diagnosis implies an uncertain risk for an inconsistent set of physical and developmental findings, as well as a substantial chance for a child that is normal physically and developmentally. We report two girls (ages nine ...
McGaughran J - - 2001
Alveolar capillary dysplasia (ACD) has been described in conjunction with a number of congenital abnormalities. The case reported here was noted in utero to have duodenal atresia and a partial atrioventricular canal defect and a provisional diagnosis of trisomy 21 was considered. A fetal blood sample showed a normal karyotype. ...
Eggermann T - - 2001
The association of uniparental disomy (UPD) and short stature has been reported for different chromosomes and in several conditions. Therefore, we investigated a cohort of 21 patients referred because of intrauterine and postnatal growth retardation for UPD of chromosomes 2, 7, 9, 14, 16, and 20. Typing of short tandem ...
Horton Y M - - 2001
To our knowledge, 58 cases of trisomy 14 in association with hematological malignancies have been reported, predominantly in myeloid malignancies. We report two patients with trisomy 14 associated with myelodysplasia. The bone marrow showed trilineage dysplasia, monocytosis and only mild thrombocytopenia. A nonmosaic karyotype was seen in both patients and ...
Kailasam C - - 2001
OBJECTIVE: We report the management and outcome of 6 cases of non-immune fetal hydrops secondary to parvovirus B19 infection presenting over a 5-month period. METHODS: The Queen Mothers Hospital is a tertiary referral centre for fetal medicine. All cases were suspected on the basis of ultrasound evidence of hydrops. Two ...
Vargas M T - - 2001
Two new cases of balanced reciprocal translocation mosaicism (BRTM) are described, one with early miscarriages and a polymalformed child and the second showing an abnormal phenotype resembling the three cases previously reported in literature. The frequency of this aberration in the population referred to in our laboratory is determined and ...
Komatsu H - - 2001
The authors report on a female infant with partial trisomy 9 (pter-->q12) together with partial monosomy 22 (pter-->q11.23) that included DiGeorge critical region (DGCR), as a result of adjacent-2 disjunction. In addition to the clinical features characteristic of trisomy 9p syndrome, the patient had Truncus arteriosus type A2, bilateral hydronephrosis, ...
Baumer A - - 2000
Triploidy is one of the most frequently observed chromosome abnormalities in spontaneous abortions in humans. The parental origin of the additional chromosome set is known to have a major impact on the phenotype of the foetuses and to result in differences in size and structure of the placenta. Early studies ...
Ogata T - - 2000
BACKGROUND: Although the frequent association between distal 10q monosomy and urogenital anomalies suggests the presence of a gene(s) for urogenital development on distal 10q, molecular deletion mapping has not been performed for the putative gene(s). In this study, we examined genotype-phenotype correlations in patients with distal 10q monosomy. METHODS: This ...
Piegger J - - 2000
An unreported coincidence of malformations has been studied by anatomical dissection in a mature male fetus. Auxiliary, this fetus was examined by computed tomography and the skeletal malformations were three-dimensionally reconstructed. The organs of the thorax as well as of the abdomen showed a visceral inversion. In the lumbar region, ...
Babcook C J - - 2000
Data were used to determine the population prevalence of aneuploidy and additional anatomic abnormalities in fetuses with open spina bifida. The ability of sonography to predict aneuploidy and identify additional anatomic abnormalities in euploid fetuses was assessed. All cases of spina bifida occurring in the state of Utah from 1995 ...
Cheikhelard A - - 2000
PURPOSE: The prenatal diagnosis of abnormal genitalia may have a major impact on prenatal counseling and postnatal outcome. We studied the accuracy and clinical implications of the prenatal diagnosis of abnormal genitalia. MATERIALS AND METHODS: Between 1991 and 1999 the prenatal and/or postnatal diagnosis of abnormal genitalia in 53 cases ...
Martínez-Frías M L - - 2000
In 1994, we published a case with trisomy 13 who presented with ectrodactyly [Urioste et al., 1994: Am J Med Genet 53:390-392]. Recently, Kuschel and Gillessen-Kaesbach [2000: Am J Med Genet 90:87-88] presented an infant with trisomy 13 who also had oligodactyly, and they considered their case as the second ...
Thanemozhi G - - 2000
A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; ...
Chew S H - - 2000
Partial hydatidiform moles (PHM) have defined villous abnormalities and are usually triploid. Their diagnosis often can be made by morphology alone, without confirmation of ploidy, but considerable interobserver variability exists. Other genetic abnormalities such as trisomy can result in placentas with abnormal villous morphology (AVM) similar to that seen in ...
Manasse B F - - 2000
The Pallister-Killian syndrome is a rare disorder, which is clinically diagnosed and usually confirmed by the detection of mosaicism for an isochromosome 12p in fibroblast cultures. To date FISH on buccal mucosa has been used in only three cases and this detected high levels of mosaicism for the isochromosome. We ...
Gebhart E - - 2000
Hematopoietic disorders can be used as a suitable tool of additional information on the actual resolving power of comparative genomic hybridization (CGH). Therefore, CGH examination was performed of DNA extracted from 23 acute and 15 chronic myeloproliferative disorders which had just been analyzed using classical cytogenetic techniques. In nearly all ...
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