Paracentric inversion of chromosome 12 in myelodysplasia.
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Adult↗
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Results for “Chromosome Inversion”
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Inversion of chromosome 16 and eosinophilia in refractory anemia with ring sideroblasts: report of a case.
A 72-year-old male who was admitted to our hospital with severe anemia was diagnosed as refractory anemia with ring sideroblasts (RARS), according to the French-American-British (FAB) classification of myelodysplastic syndromes (MDS). The patient showed persistent eosinophilia with no definite signs of either allergy or a parasitic infection. Chromosomal analysis of bone marrow cells revealed inv(16)(p13q22), a known characteristic of M4Eo acute myeloid leukemia (AML) in the FAB classification. This patient didn't exhibit leukemic transformation during his 20-month clinical course, nor was any found at autopsy. Therefore, this is the first case of RARS to speculate that the chromosomal characteristic inv(16)(p13q22) might be specific for eosinophilia rather than AML.
Aged↗
Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7.
We describe a 6 1/2-year-old girl with the cardio-facio-cutaneous (CFC) syndrome. She presents with most of the characteristics of this condition: typical facial changes, congenital heart defect, slow growth, ectodermal dysplasia, and developmental delay. Chromosome analysis disclosed a 46,XX,inv(7)(q21.2q31.2) mat karyotype.
Abnormalities, Multiple↗
De novo pericentric inversion of chromosome 5 in a girl with mental retardation and unilateral ear malformation.
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Abnormalities, Multiple↗
Perinatal findings of partial trisomy 13q (13q14.1-->qter) resulting from paternal pericentric inversion of chromosome 13.
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Adult↗
A novel pericentric inversion of chromosome 14 involving the rRNA gene cluster.
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Adult↗
Pericentric inversion of chromosome 1 in three sterile brothers.
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Adult↗
Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy.
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Abnormalities, Multiple↗
Study on segregation of the inversion of chromosome 4 (p15.2q11) in two unrelated families.
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Chromosome Banding↗
On the significance of pericentric inversions of chromosome 2.
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Adult↗
Familial pericentric inversion of chromosome 1 in a boy with Goldenhar's syndrome.
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Child↗
Gene dosage effects for coagulation factors XII (F12) and XIII subunit A (F13A) in a case of partial monosomy 6p resulting from a maternal pericentric inversion of chromosome 6.
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Chromosome Deletion↗
Inversion of chromosome 16 in accelerated phase of chronic myeloid leukaemia: report of a case and review of the literature.
A patient with a Philadelphia chromosome-positive (Ph+) chronic myeloid leukemia (CML) developed a blast crisis (FAB subtype AML-M2) without a monocytic involvement. Karyotype showed the presence of inv(16)(p13;q22) in addition to Ph, in 16/20 marrow metaphases.
Blast Crisis↗
Acquired pericentric inversion of chromosome 9 in essential thrombocythemia.
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Bone Marrow Examination↗
Behavioral and developmental characteristics of children with inversion of chromosome 9 in Korea: a preliminary study.
The purpose of this study is to examine the behavioral and developmental characteristics of children with inv(9). This case control study included 12 inv(9) subjects and 45 normal students. All of the subjects, together with their parents, underwent a psychiatric interview and parent questionnaire consisting of a Child Behavior Checklist (CBCL). The mean scores with regard to the social problems and total problems profiles of the CBCL were significantly higher in the inv(9) group than in the normal control group. The inv(9) group exhibited language and motor developmental delay. These findings suggest that there is a possibility of inv(9) being associated with child developmental or behavioral problems.
Child↗
Pericentric inversion of chromosome 7 associated with recurrent abortion.
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Abortion, Habitual↗
Inversion of chromosome 3 (q21; q26) in a case of secondary acute leukaemia with thrombocythaemia.
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Chromosome Inversion↗
Inversion of chromosome 3 in a case of chronic myelogenous leukemia with abnormal thrombopoiesis.
A patient with chronic myelogenous leukemia (CML) associated with a remarkable increase of micromegakaryocytes in bone marrow was revealed to have an abnormality of a long arm of chromosome #3, i.e., inv(3)(q21q26), in addition to a complex Ph translocation: t(9;22;15)(q34;q11;q22). Although several cases of acute leukemia with inv(3)(q21q26) and abnormal megakaryocytes have been reported, this is the first case in which the association of inv(3)(q21q26) with a megakaryocytic abnormality was observed in a patient with CML. Our findings suggest that this structural rearrangement may be more specifically associated with abnormal thrombopoiesis than are other structural anomalies of 3q.
Blood Platelets↗