Cases reported "Trisomy"

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1/2087. Partial trisomy 9q--chromosomal syndrome.

    The clinical features consisting mainly of enophthalmos, beaked nose, narrow palpebral fissures, receding chin, long fingers and toes, typical for chromsomal syndrome or partial trisomy 9q, were confirmed in a new case.
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ranking = 1
keywords = trisomy, partial trisomy
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2/2087. Partial trisomy 20p derived from a t(18;20) translocation.

    Two sibs show a strikingly concordant syndrome of congenital anomalies and G-banding reveals that each has partial trisomy 20p resulting from a t(18;20) translocation. They resemble other cases of partial trisomy 20p in some respects but also differ in some ways. Their normal sib, mother, and half-aunt are balanced heterozygotes for the t(18;20) translocation. The segregation of the balanced translocation in this family is associated with an extremely poor reproductive record. The segregation pattern closely parallels that of a t(13;20) translocation in a family described by Carrel et al. (1971) and Francke (1972). The similarity of segregation patterns is predictable on the basis of probable pachytene configurations, but the dissimilarity of phenotypes between families is not readily explained.
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ranking = 1.2090391899477
keywords = trisomy, partial trisomy
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3/2087. Possible intrachromosomal duplication in a case of trisomy 9p.

    A 5-year-old boy with multiple minor anomalies and mental retardation was found to have chromosomal condition of 46,XY,inv dup(9p) (pter leads to p13::p21 leads to p24::p13 leads to qter). The clinical features of the propositus fit well with those of trisomy 9p which have been established to be a clinical entity.
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ranking = 0.98870101256533
keywords = trisomy
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4/2087. trisomy 9 associated with an enlarged 9qh segment in a liveborn.

    This report describes the third case of a complete trisomy 9 in a liveborn infant. A tentative explanation for the origin of a "very large" h-segment which was not present in either parent of the proposita is put forward.
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ranking = 0.19774020251307
keywords = trisomy
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5/2087. trisomy 9 in a patient with secondary acute myelogenous leukemia detected by fluorescent in situ hybridization.

    Fluorescent in situ hybridization (FISH) is a molecular cytogenetic technique that is playing an increasingly important role for augmenting the findings of conventional cytogenetics. Here we present the case history of a patient with the clinical diagnosis of secondary acute myelogenous leukemia whose bone marrow cells were found to be hyperdiploid with an extra C group chromosome in a less than optimal preparation. By using FISH the extra chromosome was unequivocally determined to be a chromosome 9. The detection of trisomy 9 in this patient underscores the utility of FISH as an adjunct to GTG banding in the routine diagnosis and management of leukemic patients.
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ranking = 0.19774020251307
keywords = trisomy
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6/2087. Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.

    A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high.
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ranking = 0.83615675979095
keywords = trisomy, partial trisomy
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7/2087. De novo mosaic add(3) characterized to be trisomy 14q31-qter using spectral karyotyping and subtelomeric probes.

    We describe a 19-year-old patient with a de novo mosaic add(3) chromosome (extra material of unknown origin on the 3q). The use of spectral karyotyping and fluorescence in situ hybridization using subtelomeric probes permitted the full characterization of the cytogenetic abnormality. The additional material on 3q was found to originate from 14q31-qter. This is one of the few reported cases with trisomy 14q31-qter and is the first mosaic case.
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ranking = 0.98870101256533
keywords = trisomy
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8/2087. Recurrent short rib-polydactyly syndrome with unusual associations.

    short rib-polydactyly syndrome (SRPS) is manifested by short-limb dwarfism, short ribs with thoracic hypoplasia, and polydactyly. This inheritable syndrome has distinct imaging findings on prenatal sonography, and ancillary findings on both pre- and postnatal assessments may enable individual cases to be classified into 1 of 4 subtypes. In this report, we present a recurrent case of SRPS that was associated with a cystic hygroma and choroid plexus cysts. Although cystic hygromas are not uncommonly seen in skeletal dysplasias, the presence of concomitant cystic hygroma and choroid plexus cysts suggests a chromosomal abnormality such as trisomy 18.
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ranking = 0.19774020251307
keywords = trisomy
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9/2087. Extrahepatic biliary atresia associated with trisomy 18.

    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 be performed in patients with jaundice and congenital anomalies. It is possible that EBA in trisomy 18 syndrome is due to a chromosomal disorder.
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ranking = 1.3841814175915
keywords = trisomy
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10/2087. Ontogeny of clenched-hand development in trisomy 18 fetuses: A serial transabdominal fetoscopic observation.

    Malpositioning of the fingers is a characteristic anomaly in fetuses with trisomy 18. The defect results in part from muscle variations along the radial margin of forearm and hand, absence of the thenar muscles, anomalous tendons and attachments among the forearm groups, and fusions among the arm flexor group. These variations result in radial or ulnar displacement of the tendons of extensor digitorum and digiti minimi, with overlapping of the fourth and fifth fingers radially and second finger in an ulnar direction. The ontogeny of these changes is unknown. We performed serial transabdominal thin-gauge fetoscopy in a patient with increased nuchal thickening at 12 weeks of pregnancy at the time of genetic testing and again at 14 weeks at the time of termination of pregnancy. Changes in the positioning of the fingers were not apparent at 12 weeks, but were evident at 14 weeks. The findings were beyond the resolution of ultrasound. We conclude that malpositioning of the fingers in trisomy 18 occurs some time between 12 and 14 weeks of gestation. Noninvasive confirmation of these findings may be possible with new and improved ultrasound imaging capabilities or perhaps with three-dimensional ultrasound.
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ranking = 1.1864412150784
keywords = trisomy
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