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Smeets E - - 2001
Whereas in the great majority of autosomal duplications/deficiencies a clinically recognizable dysmorphic syndrome is present, distal 3p duplication is not associated with major dysmorphic signs. We present the clinical data and molecular cytogenetic findings in two non-related patients. Diagnosis was made in a female child at the age of 5 ...
Qureshi F - - 2000
Fetal obstructive uropathy has seldom been described in trisomy syndromes, and its relationship to these syndromes remains unclear. Five trisomic male fetuses, four with trisomy 18 and one with trisomy 21, were identified out of 110 fetuses evaluated for fetal obstructive uropathy. We performed detailed examination on the urinary tracts ...
Kalousek D K - - 2000
The concept of confined placental mosaicism and its relationship to genomic imprinting and uniparental disomy is explained in this chapter. Clinically significant imprinting syndromes, such as Prader-Willi syndrome, Angelman syndrome, Beckwith-Wiedemann syndrome, Silver-Russell syndrome and transient neonatal diabetes mellitus, potentially associated with confined placental mosaicism are described and referenced. Non-Mendelian ...
Glass I A - - 2000
We report two sibs with trisomy for the region 2p25.1--> pter and monosomy for the region 12p13.31--> pter, due to adjacent-1 segregation of a maternal balanced reciprocal translocation, 46,XX,t(2;12)(p25.1;p13.31). These sibs presented with a mild phenotype, but nevertheless showed features of each of the contributing aneusomies. Monosomy 12p has previously ...
Tüysüz B - - 2000
We describe an eleven day-old boy and his first degree double cousin who both have distal trisomy 10q syndrome. Their cytogenetic analysis using GTG-banding showed an unbalanced translocation 46, XY, -20, +der(20), t(10;20)(q22.3, p11) mat and 46, XX, -20, +der(20), t(10;20)(q22.3, p11) mat. The translocation was confirmed by FISH. We ...
Zollino M - - 1999
A syndrome of mental retardation and multiple congenital anomalies, including craniosynostosis and overgrowth, was observed in two related individuals from a large kindred. Both of them carried a 15q25.1-qter trisomy associated with a subtle 13qter monosomy resulting from unbalanced segregation of a familial t(13;15)(q34;q25.1) translocation. Reportedly, a further individual in ...
Siarey R J - - 1999
Long-term potentiation (LTP) and depression (LTD) were investigated in hippocampus of a genetic model of Down syndrome, the segmental trisomy (Ts65Dn) mouse. Field excitatory postsynaptic potentials were recorded from hippocampal slices and LTP and LTD evoked sequentially. LTP decreased whereas LTD increased significantly in Ts65Dn compared with control hippocampus.
Cox A W - - 1999
Autosomal trisomies are associated with major congenital malformations that may result in prolonged hospitalization of the newborn. Knowledge about these chromosomal abnormalities is important for nurses in neonatal practice. This article identifies the causes and manifestations of most of these trisomies: trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and ...
Gancberg D - - 1999
Numerous chromosome abnormalities have been described in myelodysplastic syndromes, but single karyotypic aberrations are much less frequent. We report the case of a 65-year-old woman who presented a trisomy 21 as the sole karyotypic anomaly for a refractory anemia with ring sideroblasts. The nature of such an anomaly is discussed ...
Matthews A L - - 1999
The birth of an infant with a chromosomal abnormality such as trisomy 18, 13, Wolf-Hirschhorn (4p-) syndrome, Cri-du-chat (5p-) syndrome, and the microdeletion syndromes creates a stressful and devastating experience for families. Many of these disorders have severe consequences encompassing major malformations and mental retardation. With increasing diagnostic accuracy, clinicians ...
Federico A - - 1999
Patients with the trisomy 9p syndrome and CNS abnormalities have been poorly assessed. We report a patient with trisomy 9p who showed band heterotopia on MRI. Abnormal neuronal migration is sufficiently frequent in patients with the trisomy 9p syndrome that brain MRI should be routinely considered in all patients with ...
Morrison S C - - 1999
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 ...
Ron-el R - - 1999
Klinefelter's syndrome is one of the known causes of azoospermia or cryptoazoospermia, and it may present in non-mosaic (47,XXY) or mosaic (47,XXY/46,XY) form. The likelihood of finding spermatozoa in the ejaculate or testicular tissue of patients with mosaic Klinefelter's syndrome is low, and with the non-mosaic form, even lower. We ...
Ikeda S - - 1999
A case of extrahepatic biliary atresia (EBA) associated with trisomy 18 is presented. A 1-month-old boy was suspected to have Alagille syndrome with obstructive jaundice, a systolic heart murmur, growth retardation, and a small, pointed chin. However, surgery and chromosomal analysis revealed EBA associated with trisomy 18. Chromosomal examination must ...
Azar G M - - 1999
We report a case of partial trisomy 3q syndrome which could not be clinically identified as a distinct entity. The major clinical findings include: psychomotor delay with behavioral problems, coarse facial features, frontal bossing, bushy eyebrows, prominent ears, a small upturned nose and a history of repaired inguinal hernia. There ...
Iannello R C - - 1999
Total or partial trisomy of chromosome 21 occurs with relatively high frequency and is responsible for the occurrence of Down syndrome. Phenotypically, individuals with Down syndrome display characteristic morphological features and a variety of clinical disorders. One of the challenges for researchers in this field has been to ascertain and ...
Saneto R P - - 1998
Trisomy 9 syndrome is characterized by "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous systems. With the exception of one reported case study, all surviving infants have had severe mental impairment. The prospect of severe mental retardation often overwhelms parents who are faced ...
Kusanagi Y - - 1998
BACKGROUND: Hypereosinophilic syndrome is characterized by peripheral blood eosinophilia and multiple organ system involvement. Only one case in a newborn has been reported. CASE: Fetal sonography performed on a 33-year-old woman at 35 weeks' gestation showed pericardial effusion and cardiomegaly. The infant was delivered by cesarean at 35 weeks' gestation ...
Wenstrom K D - - 1998
OBJECTIVE: Our purpose was to determine whether the combination of maternal serum alpha-fetoprotein, free human chorionic gonadotropin-beta, dimeric inhibin A, and maternal age detects aneuploidies other than Down syndrome. STUDY DESIGN: We retrieved stored serum from pregnancies complicated by aneuploidies other than Down syndrome from 1988 to 1997 (n = ...
Hallahan T W - - 1998
To evaluate the potential utility of free beta (hCG) and beta-core (hCG) in a prenatal screening protocol for Down syndrome we analysed these markers in dried maternal urine specimens from 163 control, 13 Down syndrome and 5 trisomy 18 pregnancies from 8 to 25 weeks' gestation. All results are reported ...
Nakagawa M - - 1998
A 34-month-old boy presented with clinical manifestations of Teebi hypertelorism syndrome including prominent forehead with frontal bossing, hypertelorism, exophthalmos due to shallow orbits, a short and broad nose with anteverted nares, small hands and feet with interdigital webbing, umbilical hernia, and shawl scrotum. In addition, he had previously undescribed manifestations ...
Flaherty L - - 1998
A case is presented in which monosomy 21 was detected by routine cytogenetics and fluorescence in situ hybridization (FISH) studies demonstrated an unbalanced translocation t(5;21). The patient was partially monosomic for both 5p and 21q. The phenotype of the infant showed some features of the 5p- (cri-du-chat) syndrome, but there ...
Fujimoto A - - 1998
A de novo direct duplication of 9p22-->p24 was shown in a child with a duplication 9p phenotype by GTG banding and fluorescence in situ hybridization (FISH) using a chromosome-9 specific painting probe as well as 6 YAC DNA probes localized to the 9p13-9p23 region. The breakpoints in this patient and ...
Verger P - - 1997
This review examines the epidemiologic and experimental studies into the possible role ionizing radiation might play in Down Syndrome (trisomy 21). It is prompted by a report of a temporal cluster of cases of this chromosomal disorder observed in West Berlin exactly 9 mo after the radioactive cloud from Chernobyl ...
Chen C P - - 1997
We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at 19 weeks' gestation due to advanced ...
Salihu H M - - 1997
Our aim was to investigate the contribution of certain antenatally detectable markers leading to the diagnosis of trisomic fetuses we observed over a period of 6 years. In our study, we specifically analyzed the role played by advanced maternal age and sonographically discovered abnormalities in the detection of autosomal trisomies. ...
Henegariu O - - 1997
We report on a female infant with partial 6q trisomy (46,XX,dir dup(6)(q23.3q25.3)) and phenotypic characteristics of the "duplication 6q syndrome," including intrauterine growth retardation, dolichocephaly, depressed nasal bridge, almond-shaped palpebral fissures, short neck, flexion-contractures of the wrists, and mild generalized hypertonia. Although clearly belonging to the described "duplication 6q syndrome," ...
Dougall T W - - 1997
Congenital radial head dislocation (CRHD) can occur as an isolated abnormality, as part of an upper-limb anomaly or as a feature of at least fourteen syndromes. The dislocation may be unilateral or bilateral, and rarely can be bilaterally asymmetrical. CRHD is often asymptomatic, and may go undiagnosed and remain undetected ...
el-Shanti H - - 1997
Individuals with free and total trisomy 12 are rare and always mosaic. Incidences of partial trisomy 12 are more frequent and are classified into trisomy 12p and trisomy 12q. The phenotype of both trisomy 12p and trisomy 12q is well described in the literature. We report here, the rare occurrence ...
Chrobok V - - 1997
The temporal bones from fetuses with known autosomal trisomy syndromes were examined histopathologically after spontaneous or induced abortions. Fetal ages dated from the 17th to the 24th week of pregnancy. In all, 17 temporal bones from nine fetuses were studied and included seven cases of Down's syndrome and two of ...
Israëls T - - 1996
Here we report on a boy with both a partial deletion of chromosome 18p and a partial duplication of chromosome 18q, caused by a paternal pericentric inversion (46,XY,rec(18),dup q,inv(18)(p11.2q21.1)pat). The findings in the patient are compared to those in the literature. The symptoms in the described patient can be explained ...
Sener R N - - 1996
In patients with the trisomy 13 syndrome the most commonly encountered brain anomaly is holoprosencephaly, which occurs in approximately 80% of cases. In trisomy 13 patients without holoprosencephaly, previously reported anomalies include callosal dysgenesis, hippocampal hypoplasia, olfactory hypoplasia, and cerebellar dysplastic changes such as vermian hypoplasia and dysplastic cortices. Dysplasia ...
Cornish K M - - 1996
Developmental and behavioural characteristics were assessed in 27 children with cri du chat syndrome using the Society for the Study of Behavioural Phenotypes questionnaire, which gave information on prenatal and perinatal conditions, neurological problems, and developmental and behavioural difficulties. The findings suggest that the behavioural profile of children with cri ...
Lane N J - - 1996
Mouse trisomy 16 (Ts16) appears to provide an animal model of Down's syndrome in that a portion of mouse chromosome 16 is syntenic with part of human chromosome 21. Trisomy 21 in human beings leads to the mental retardation of Down's syndrome and in middle age, to some presenile anatomic ...
Hou J W - - 1996
We report a female baby with multiple congenital anomalies including left upper amelia, congenital short bowel with malrotation and pseudo-obstruction, dextrocardia with situs solitus, patent ductus arteriosus, and a tiny atrophic spleen. Chromosome study showed de novo 46,XX/46,XX,-4, + r(4)(p16-->q22.3)/47,XX,4, + r(4) (p16-->q22.3), + del(4)(pter-->q22.3:). The clinical findings in the ...
Temtamy S A - - 1996
We report on an Egyptian girl with phenotypic abnormalities of cerebro-oculofacio-skeletal syndrome. She had microcephaly, bilateral congenital cataract, nystagmus, long ear pinnae, camptodactyly, prominent heels, coxa valga, kyphosis and flexure contracture of the elbows and knees. CT scan showed bilateral symmetrical intracranial calcifications. In addition, she had an apparently balanced ...
Leal-Garza C H - - 1996
A baby with stigmata of Down's syndrome was found to be a mosaic with two different cell lines: 45,XX,der(14q;21q)/46,XX,der(21q;21q)+21. The chromosome rearrangements appeared to have risen de novo. Four mechanisms are discussed for the origin of the mosaicism: dissociation of a translocation (14q;21q) chromosome already present in the 45,XX, der(14q;21q) ...
O─čur G - - 1996
Two children with Klinefelter syndrome (KS), one associated with bilateral hereditary retinoblastoma (RB) and the other with rhabdomyosarcoma (RMS) are reported. Both were boys and chromosomally mosaic for KS. The hereditary retinoblastoma case yielded 46,XY,del(13)(q12q14.2)/47, XXY(c),del(13)(q12q14.2) in PHA-stimulated lymphocytes. The rhabdomyosarcoma case yielded 46,XY/ 47,XXY(c) in peripheral blood cells whereas ...
Helali N - - 1996
A mild clinical phenotype is described in a patient with duplication of 13q32-->qter and a small deletion of 18p11.32-->pter. The 8 year old white male presented with psychomotor retardation, tethered cord, soft, fleshy ears, and normal facial features except for thin lips. The karyotype was found to be 46, XY, ...
Turleau C - - 1996
Pallister-Killian syndrome is a clinically recognizable syndrome characterized by tissue-limited mosaicism for an extra 12p isochromosome. Very little is known about the underlying mechanism of this rare rearrangement. Microsatellite markers were studied from three fetuses with Pallister-Killian syndrome and their parents to determine the parent of origin and the cell ...
Bühler E M - - 1996
We report on a boy with mosaic trisomy 15. The clinical manifestations are compared with those of the few cases reported up to now. A clinical syndrome is delineated consisting of a characteristic shape of the nose and other minor craniofacial anomalies, as well as typical deformities of the hands ...
Shashi V - - 1996
A newborn infant born to consanguineous (first cousin) parents was noted to have complex congenital heart defect and minor anomalies suggestive of trisomy 18. Blood lymphocyte and skin fibroblast karyotypes were normal. He died in the neonatal period of postoperative complications. On interphase fluorescence in-situ hybridization (FISH) using autopsy specimens, ...
Ladonne J M - - 1996
Trisomy 22 was detected in a 32-week-old fetus born to an overweight mother with hypertension. Severe intrauterine growth retardation was associated with phenotypic manifestations of Fryns syndrome: diaphragmatic hernia, facial defects, and nail hypoplasia with short distal fifth phalanges. This is the second report of congenital diaphragmatic hernia in trisomy ...
Halpern G J - - 1996
We describe a postterm female infant with multiple anomalies who had trisomy 10q23.1-->10q26. The patient had an unbalanced translocation inherited from her father who is a balanced carrier with the karyotype 46,XY,t (10;13) (q23.1;q34). In addition to the recognized features of trisomy 10q syndrome, our patient demonstrated certain specific abnormalities ...
Satgé D - - 1996
A 22-week-old fetus with trisomy 21 demonstrated intratubular germ cell neoplasia. This is the second report of in situ testicular neoplasia in a fetus with trisomy 21, suggesting that the mechanism responsible for the possible excess of testicular germ cell tumors that occur in Down syndrome is operative in early ...
Ausems M G - - 1996
A patient is described with partial trisomy 9p and partial monosomy 8p due to a maternal translocation (t(8;9)(p23;p13)). The clinical phenotype is compatible with the partial trisomy 9p syndrome. This is a clinically recognizable syndrome with mental retardation as a constant feature. Little is known about the outcome and level ...
Shetty H U - - 1996
myo-Inositol and several other polyols were measured in the tissues of the trisomy 16 mouse (animal model of Down's Syndrome; human trisomy 21) and diploid controls. myo-Inositol was found to be selectively elevated in the brain of the trisomy 16 mouse. However, peripheral tissues showed no elevation. These results are ...
Redha M A - - 1996
A 3-year-6-month old Lebanese female child with multiple congenital anomalies including, facial dysmorphism, prominent low set ears, micrognathia, anti-mongoloid palpebral fissures and psychomotor retardation was investigated. Her karyotype showed de novo 46, XX, dir dup (7)(p11.2-->pter). The phenotypic manifestations in dir dup (7p) cases are briefly reviewed. Our observations in ...
Pierluigi M - - 1996
We report a modified method for the rapid detection of aneuploidies directly on human uncultured amniocytes that simplifies and shortens the entire experimental procedure, yielding signals which allow correct diagnosis of trisomy 21 in 97% of cases. The improvement is based on two points: 1) use of cosmid pockets specific ...
Ghani F - - 1995
Of 901 karyotypes performed over a period of 4 years, genetic anomalies were detected in 162 cases. Down's syndrome (trisomy 21) was the most common (168.8%) genetic disorder followed by Turner's syndrome, Philadelphia chromosome, Klinefelter's syndrome, Edward's syndrome (trisomy 18) and Patau's syndrome (trisomy 13). All the three trisomies were ...
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