Cases reported "Aneuploidy"

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21/94. Sperm chromosome aneuploidy analysis in a man with globozoospermia.

    OBJECTIVE: To determine the frequencies of chromosome aneuploidy and diploidy in sperm from a male with globozoospermia. DESIGN: Assessment of sperm chromosome aneuploidy and diploidy frequencies by multicolor fluorescence in situ hybridization (FISH) analysis. SETTINGS: University research laboratory. PATIENT(S): An infertile patient with round-headed sperm (globozoospermia). INTERVENTION(S): Sperm samples were obtained by masturbation for cytogenetic analysis. MAIN OUTCOME MEASURE(S): aneuploidy and diploidy frequencies were assessed by multicolor FISH analysis for chromosomes 1, 15, 21, X, and Y and compared with those of five control donors. RESULT(S): A minimum of 10,000 sperm was analyzed per chromosome probe, for a total of 30,145 sperm. There was a statistically significantly increased frequency of XY disomy in the man with globozoospermia compared with the case in normal donors. The frequency of aneuploidy for chromosomes 1, 15, 21, XX, and YY was not statistically significantly increased. The frequency of diploidy was also not statistically significantly different. CONCLUSION(S): A previous report demonstrated an increased frequency of chromosome 15 aneuploidy in sperm of a globozoospermia patient who fathered a trisomy 15 conceptus. No other report has studied the frequency of chromosome 15 aneuploidy in these infertile men. Our study does not demonstrate an increased risk for chromosome 15 aneuploidy associated with globozoospermia. However, an elevated frequency of XY disomy was discovered, which is the most common type of chromosome abnormality observed in sperm of infertile men.
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ranking = 1
keywords = trisomy
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22/94. Characterisation of a 19-year-old "long-term survivor" with Edwards syndrome.

    trisomy 18 is the second most frequent autosomal aneuploidy affecting about 1 in 8,000 new-borns. Similar to trisomy 13 more than 90% of the patients die within the first year. Main causes of death are failure of vital organ function, in most cases of brain, heart, kidney, and gut, sometimes combined with severe infections. The degree to which essential organs are affected at birth and the clinical course differ considerably. Unknown genetic factors and various environmental effects are most likely involved. A less severe course of Edwards syndrome can be caused by a partial trisomy due to a deletion of the extra chromosome 18 or somatic mosaicism with a trisomic and a normal cell-line in the patient. In this report conventional chromosome analysis, FISH, and QF-PCR have been performed on a 19-year-old female patient with trisomy 18 to investigate a large number of cells including non-mitotic cells from various different tissues. This study supports evidence for an apparently pure form of trisomy 18 in this "long-living" patient with Edwards syndrome.
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ranking = 4.7507283478978
keywords = trisomy, partial trisomy
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23/94. Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.

    Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-limited mosaicism for a supernumary 12p isochromosome (i12p). Here we report an unusual case with tetrasomy/trisomy/disomy 12p mosaic in fibroblasts and trisomy/disomy 12p mosaic in lymphocytes. The tetrasomy 12p was due to an i12p, the trisomy 12p to a single 12p marker. Both marker chromosomes were investigated with conventional cytogenetic techniques and fluorescent in situ hybridization (FISH). Stability under culturing conditions was studied. dna-analysis revealed prezygotic maternal origin of the extra 12p material. Clinically, the patient seems to have less retardation than most patients with Pallister-Killian syndrome.
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ranking = 3
keywords = trisomy
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24/94. First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.

    Isopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of the kidney, bilateral aplasia of thumbs, and generalized contractures. cytogenetic analysis revealed an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)). The isopseudodicentric chromosome 18 was observed in 100% of blood lymphocytes and umbilical cord fibroblasts, thus indicating a non-mosaic finding of the isopseudodicentric chromosome in the child. An elongated derivative chromosome 18 had also been found prenatally in amniotic cells. In contrast, a terminal deletion (18q-) was detected in placental cell cultures. The breakpoint was mapped to a 0.9 Mb region on 18q22.1 (located 64.8-65.7 Mb from the telomere of the p-arm) by a novel quantitative PCR approach with SYBR green detection. The results indicate an identical breakpoint of the isopseudodicentric chromosome 18 in the child and the 18q- chromosome in the placenta. To our knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)) in non-mosaic form can be viable, but is associated with severe congenital malformations of the child.
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ranking = 5.7507283478978
keywords = trisomy, partial trisomy
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25/94. trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities.

    An 18 week foetus with multiple system abnormalities was found to have full trisomy 16. This appears to be only the third reported case surviving into mid-gestation; typically, this common aneuploidy dies post-implantation. Similarities exist in the abnormalities found in the three cases suggesting that there is a 'surviving' trisomy 16 phenotype. It is characterised by: absent hemidiaphragm, pulmonary hypoplasia/aplasia, major cardiac defect, small chest, vertebral and rib defects, cystic kidneys, absent gall bladder, multiple spleens and imperforate anus, together with cleft palate, nuchal webbing/cystic hygroma, microcephaly, marked dysmorphic facial features and dorsiflexed great toe.
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ranking = 2
keywords = trisomy
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26/94. Double mosaic aneuploidy: 45,X/47,XY, 8 in a male infant.

    We report on a 13-month-old boy with abnormalities consistent with mosaic trisomy 8 syndrome and male genitalia with partial penoscrotal transposition without hypospadias, a retractile left testis in inguinal canal, and an absent right testis. A voiding cystourethrogram showed an outpouching close to the lower right side of the bladder (utriculum) and bilateral hydronephrosis secondary to vesicoureteral reflux. Peripheral blood karyotype was 45,X/47,XY, 8. The karyotype of cultured skin fibroblasts was 47,XY, 8 with no 45,X cells detected among 20 cells counted. tissues removed during surgery documented a 45,X/47,XY, 8 complement in the left testicle and utriculum, but only a 45,X line among 20 cells counted from vas deferens tissue. A possible mechanism for the origin of this previously unreported mosaicism might be an abnormal zygote with a 47,XY, 8 complement with subsequent simultaneous loss of chromosome Y and 8 in a cell at a very early embryonic stage.
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ranking = 1
keywords = trisomy
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27/94. Double trisomy as a mosaic. Case history (48, XYY, 21/47,XY, 21) and survey of the literature of mixed autosomal-gonosomal trisomies.

    The case of a boy is reported showing the typical symptoms of Down's syndrome, in whom the chromosome analysis revealed a mosaic karyotype: 50% 48,XYY, 21/50% 47,XY, 21. Findings of 92 cases from the literature are summarized to show the frequencies of double gonosome-autosome aneuploidies compared with single trisomies. Referring to the different chromosomes involved, the aneuploid cell formation, the frequencies of combinations, as well as the tendency to mosaic formation are analyzed. The age of parents at the time of birth and the life expectancy are described as well as the clinical symptoms. Theories concerning the origin of double aneuploidies are discussed.
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ranking = 4
keywords = trisomy
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28/94. Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q.

    tetrasomy of proximal 14q is an extremely rare condition and has never been reported to be associated with survival. We here report on the first case of mosaic tetrasomy of 14pter-q13 due to a de-novo supernumerary pseudoisodicentric chromosome in a 2-year-old boy with multiple dysmorphisms and malformations. The marker was detectable in nearly 25% of lymphocytes as well as in cells from buccal mucosa. Detailed fluorescence in situ hybridization (FISH) analyses allowed the characterization of the marker to entirely consist of proximal 14q material and to be symmetric. The pattern of clinical features in our patient only slightly correspond to that of patients with trisomy of proximal 14q, but further cases are needed to define whether tetrasomy of proximal 14q is a separate entity.
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ranking = 1
keywords = trisomy
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29/94. Placental mesenchymal dysplasia associated with fetal aneuploidy.

    OBJECTIVES: To describe three cases of placental mesenchymal dysplasia (PMD) associated with abnormal karyotype and review the cases reported in the literature. methods: The cases were retrieved from the files of three different institutions. A search of the English language literature was performed using medline database. RESULTS: Placental abnormalities suggestive of molar changes were seen on the prenatal ultrasound scans. Histologically, the cases had large, hydropic stem villi with myxomatous stroma, cistern formation and 'chorangiomatoid' changes. The placental and fetal karyotypes identified were trisomy 13 (47,XX,t(1:13)(q32;q32) 13); klinefelter syndrome (47,XXY) and triploidy (69,XXX). Including these 3 cases, of 66 reported cases, 51 (78%) were female and 14 (22%) male (ratio 3.6:1); the karyotype was normal in 32/36 (89%) and abnormal in 4/36 (11%); beckwith-wiedemann syndrome was confirmed or suspected in 15/66 (23%). Excluding termination of pregnancies, intrauterine death occurred in 18/54 (33%) cases. CONCLUSION: molar ultrasonographic appearances associated with increased maternal serum alpha-fetoprotein but normal, or slightly elevated, levels of ss human Chorionic Gonadotrophin should raise the clinical suspicion of PMD. The diagnosis of this condition should not be disregarded when an abnormal fetus and/or an abnormal karyotype are demonstrated.
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ranking = 1
keywords = trisomy
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30/94. tetrasomy 9q in an infant with cleft palate and multiple anomalies.

    We report a patient with partial tetrasomy 9q resulting from a de novo triplication of 9q13q22.1. The clinical features, including microcephaly, beaked nose, short palpebral fissures, camptodactyly, joint contractures, and moderate developmental delay were similar to trisomy 9q, although our patient also had unique features including cleft palate and several unexplained fractures. The latter could be secondary to abnormal tone and contractures. Although tetrasomy 9p is a well-known entity, our patient, to our knowledge, is the first and only individual reported to have tetrasomy 9q.
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ranking = 1
keywords = trisomy
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