Cases reported "Monosomy"

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21/128. Possible isochromosome 22 leading to trisomy 22.

    We describe the first case of trisomy 22 resulting from a monocentric, possible isochromosome 22. The female infant had multiple anomalies including an abnormal face, ambiguous genitalia, and both ventricular and atrial septal defects. survival was short.
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ranking = 1
keywords = trisomy
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22/128. Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene.

    Two sisters are reported, both with a myelodysplastic syndrome (MDS) associated with partial monosomy 7. A trisomy 8 was also present in one of them, who later developed an acute myeloid leukemia (AML) of the M0 FAB-type and died, whereas the other died with no evolution into AML. Besides FISH studies, microsatellite analysis was performed on both sisters to gather information on the parental origin of the chromosome 7 involved in partial monosomy and of the extra chromosome 8. The chromosomes 7 involved were of different parental origin in the two sisters, thus confirming that familial monosomy 7 is not explained by a germ-line mutation of a putative tumor-suppressor gene. Similar results were obtained in two other families out of the 12 reported in the literature. Noteworthy is the association with a mendelian disease in 3 out of 12 monosomy 7 families, which suggest that a mutator gene, capable of inducing both karyotype instability and a mendelian disorder, might act to induce chromosome 7 anomalies in the marrow. We postulate that, in fact, an inherited mutation in any of a group of mutator genes causes familial monosomy 7 also in the absence of a recognized mendelian disease, and that marrow chromosome 7 anomalies, in turn, lead to MDS/AML.
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ranking = 0.2
keywords = trisomy
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23/128. A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with wolf-hirschhorn syndrome and rec dup(4p).

    In a girl presenting with features of wolf-hirschhorn syndrome, cytogenetic and molecular cytogenetic analysis revealed a rearranged chromosome 4 with monosomy of the distal bands 4pter-->4p16.2 and trisomy of the distal bands 4q35.1-->4qter [rec dup(4q)] due to a large, paternal pericentric inversion. In the following two pregnancies, prenatal diagnosis showed the same imbalance in one fetus and a reverse segmental imbalance [rec dup(4p)] in the other. We discuss the recombination risk of the given inversion with respect to the size of the inverted segment and the viability of the recombinants. The high frequency of recombinants in this family and others suggests a high recurrence risk in similar cases with large pericentric inversions comprising almost entire chromosomes.
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ranking = 0.2
keywords = trisomy
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24/128. prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21.

    We report an unbalanced translocation involving chromosomes 14 and 21 which presented as fetal ventriculomegaly at 33 weeks gestation. Second trimester ultrasound had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(14;21)(q12;q21). The unbalanced translocation in the fetus resulted in trisomy for 14pter-->q12 and monosomy for 21pter-->q21. Postnatal examination showed that the male infant had a cleft palate, but no cleft lip, and mild dysmorphic features. Postnatal MRI revealed bilateral and symmetric dilatation of the occipital horns, atria, and temporal horns of the lateral ventricles. Molecular cytogenetic techniques were used to delineate further the breakpoint on chromosome 14 to a site distal of the D14S1071 locus and the breakpoint on chromosome 21 to a region between D21S1918 and D21S1902. More precise definitions of chromosomal breakpoints in such clinical cases should provide more accurate prognosis for individuals with unbalanced karyotypes and assist in the identification of putative developmentally important genes.
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ranking = 4.2478531404743
keywords = partial trisomy, trisomy
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25/128. Unique case of trisomy 2p24.3-pter with no associated monosomy.

    We report a 3-year-old girl with trisomy 2p24.3-pter who presented with marked psychomotor delay and dysmorphic features. This patient represents the only known case of trisomy 2p24.3-2pter that does not involve an associated functional monosomy. In contrast to recent reports highlighting the fatal or serious complications in patients described as having partial trisomy 2p, this patient does not have significant birth defects or life threatening medical problems. Notably, this patient does not have a neural tube defect (NTD), which has been attributed to a putative locus at 2p24 in other patients with a partial trisomy 2p.
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ranking = 3.2239265702372
keywords = partial trisomy, trisomy
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26/128. trisomy 4 pter-q12 and monosomy of chromosome 13 pter-q12 in a male with deficiency of all blood lymphocyte populations.

    A six-year-old male presented with multiple congenital anomalies, mental retardation, developmental delay, and an increased frequency of upper and lower respiratory infections and deficiency of all blood lymphocyte populations. Chromosome analysis showed an unbalanced translocation involving chromosomes 4 and 13, leading to partial trisomy for 4pter-q12 and partial monosomy for 13pter-q13 [karyotype, 46,XY, der(4)t(4;13)(q12;q12),-13)]. The mother is the carrier of a balanced translocation involving chromosomes 4 and 13. The translocation is known to be segregating for three generations in this family. The child was found to have deficiency of all blood lymphocyte populations, but other hemopoietic lineages appeared to be normal. In addition, his fresh T cells were principally CD45RA , CD62L , and deficient in the Fas receptor. This deficiency of all blood lymphocyte populations may be due to an overdose of a gene or genes located in the region of chromosome 4 or a partial deficiency of a gene or genes in the region of chromosome 13 that regulate the development of the lymphocyte lineage. Since the mother contributed two copies of chromosomal region 4pter-q12 and no copy of 13pter-q12, the deficiency of all blood lymphocyte populations in our patient may be the result of either uniparental disomy or imprinting. A maternal granduncle with dissimilar dysmorphic features was not lymphopenic but was neutropenic.
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ranking = 1.0119632851186
keywords = partial trisomy, trisomy
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27/128. prenatal diagnosis of der(11)t(11;18)(q24;q21.3) due to paternal balanced translocation and both parents are carriers of alpha-thalassemia-1--a case report.

    A couple were identified as alpha-thalassemia-1 carriers (father: alpha-thal-1 of Filipino type, mother: alpha-thal-1 of SEA type). amniocentesis was done at 19 weeks of gestation by a local obstetrician. Molecular study of amniotic fluid presented a non-thalassemia fetus, but the cytogenetic study revealed a karyotype of 46,XX,der(11)t(11;18)(q24;q21.3), resulting from a paternal balanced reciprocal translocation and unbalanced adjacent 1 segregation. The pregnancy was terminated at 23 weeks of gestation. The gross of fetus revealed bilateral cleft lip and palate, hypertelorism, flat nasal bridge, frontal bossing, micrognathia, low set ears, short neck with cystic hygroma, overlapping fingers, prominent heels, and limited hip abduction. The chromosome complement of the present case was partial monosomy for 11q24-qter and partial trisomy for 18q21.3-qter. This is the first prenatal diagnosis of unbalanced translocation with der(11)t(11;18)(q24;q21.3) pat due to paternal balanced translocation and both parents being carriers of alpha-thalassemia-1.
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ranking = 1.0119632851186
keywords = partial trisomy, trisomy
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28/128. Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q.

    We report on a 28-year-old man with trisomy 7q34-qter and monosomy 15q26.3-qter caused by a paternal balanced chromosomal translocation, t(7;15)(q34;q26.3). He had bilateral congenital glaucoma (buphthalmos), as well as typical manifestations of partial trisomy 7q. To our knowledge, this is the second description of a possible relation between congenital glaucoma and 7q trisomy. He also had some silver-russell syndrome features, such as short stature of prenatal onset, a characteristic triangular face, clinodactyly of the fifth fingers, and body asymmetry. fluorescence in situ hybridization analysis on his chromosomes revealed that one copy of the insulin-like growth factor 1 receptor gene (IGF1R) at 15q25-q26 was deleted, suggesting a possible role of IGF1R in the SRS phenotype.
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ranking = 5.4598164255929
keywords = partial trisomy, trisomy
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29/128. Hepatosplenic gamma/delta T-cell lymphoma with isochromosome 7q, translocation t(7;21), and tetrasomy 8 in a 9-year-old girl.

    The authors report a child younger than age 15 years with a rare hepatosplenic gamma/delta T-cell lymphoma, which is highly aggressive and primarily seen in young men. A 9-year-old girl presented with thrombocytopenia and hepatosplenomegaly. bone marrow analysis revealed a metastatic pleomorphic lymphoma of peripheral T-cell phenotype, with rearrangement of the T-cell receptor gamma/delta and expression of CD3 and CD16/56. Instead of the previously reported primary, nonrandom, chromosomal abnormalities, isochromosome 7q and trisomy 8, this patient had four copies each of chromosome 7q, including isochromosome 7[i(7)(q10)] and der(21)t(7;21), as well as chromosome 8. This entity needs to be considered in women and children with lymphoma. Conventional therapy appears to be inadequate for cure.
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ranking = 0.2
keywords = trisomy
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30/128. Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient.

    We report on a 29-year-old male patient with an inverted 7(q35-qter) duplication diagnosed by combining cytogenetic and FISH studies. Traditional G-banding detected an abnormally long chromosome 7 which was further demonstrated to be entirely of chromosome 7 origin by using fluorescent whole chromosome 7 painting. The presence within the additional segment of a signal for 7q36 region (Williams control probe) and the absence of signals for 7q33 (Y938G5 probe) and 7q34 (Y815G5 probe) regions indicated that the breakpoint for this rearrangement was distal to 7q34 and proximal to 7q36. A distal 7p22 deletion was confirmed by the absence of signal for the 7p subtelomeric probe. Apart from kyphosis, developmental/mental retardation and abnormal ears, the clinical features of the present patient, who is the oldest individual ever reported with this duplication/deletion, were not typical for partial 7q trisomy syndrome. A review of the cases reported with 7(q35-qter) duplication is made and shows important clinical variability but constantly normal pre- and postnatal growth, a feature which can therefore be confirmed as distinctive of distal 7q trisomy syndrome.
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ranking = 0.4
keywords = trisomy
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