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We observed a paracentric inversion of 19p in a 15-month-old white boy with developmental delay and mild facial anomalies. The inversion of 19p was also present in his phenotypically normal mother and maternal grandfather.
To investigate patterns of genetic recombination within a heterozygous paracentric inversion of chromosome 9 (46XY inv[9] [q32q34.3]), we performed sperm typing using a series of polymorphic microsatellite markers spanning the inversion region. For comparison, two donors with cytogenetically normal chromosomes 9, one of whom was heterozygous for a pericentric chromosome 2 inversion (46XY inv[2] [p11q13]), were also tested. Linkage analysis was performed by use of the multilocus linkage-analysis program SPERM, and also CRI-MAP, which was adapted for sperm-typing data. Analysis of the controls generated a marker order in agreement with previously published data and revealed no significant interchromosomal effects of the inv(2) on recombination on chromosome 9. FISH employing cosmids containing appropriate chromosome 9 markers was used to localize the inversion breakpoint of inv(9). Analysis of inv(9) sperm was performed by use of a set of microsatellite markers that mapped centromeric to, telomeric to, and within the inversion breakpoints. Three distinct patterns of recombination across the region were observed. Proximal to the centromeric breakpoint, recombination was similar to normal levels. Distal to the telomeric breakpoint, there was an increase in recombination found in the inversion patient. Finally, within the inversion, recombination was dramatically reduced, but several apparent double recombinants were found. A putative model explaining these data is proposed.
A phenotypically otherwise normal homosexual man with a 46,XY,inv(2)(q21q33) karyotype inherited from his mother is described. The breakpoints were different from those observed in the only other case of familial paracentric inversion of chromosome 2 reported in the literature, but in our case they seem to correspond to constitutive and aphidicolin-induced fragile sites.
Chronic lymphocytic leukemia (CLL) has been reported to be associated with various chromosomal aberrations, the most common being trisomy 12 and structural rearrangements involving 13q, 11q, and 17p. We present a case of CLL with a constitutional pericentric inversion of chromosome 1.
The clinical picture associated with a deletion of a central part of the short arm of chromosome no. 9 is described in two siblings. The clinical signs differ from those described in deletion of the terminal part of the short arm. Pericentric inversion of chromosome no. 9, combined with a rearrangement involving chromosomes 9 and 10, was found in the mother and the maternal grandmother of the propositus.
A female infant with multiple congenital anomalies was ascertained to have 46,XX,rec(18)dup q, inv(8)(p23q22) through a carrier father with pericentric inversion of chromosome 8 (46,XY,inv(8)(p23q22). Comparison of the clinical and cytogenetic findings are made with previously published similar cases.
The purpose of this study has been to refer the main clinico-biologic characteristics, the evolution and the response to therapy in 6 patients with acute myelomonocytic leukemia with eosinophilia and inversion of chromosome 16 (AML4Eo inv[16]) belonging to a series of 92 patients with acute myeloblastic leukemia diagnosed in a single hospital between 1987 and 1995. The main clinical manifestations were anemic syndrome and hemorrhage. Anemia and thrombocytopenia were present in all cases, high white blood cell count in 4, monocytosis in 5 and eosinophilia in one. Bone marrow aspirate showed myeloid and monocytic blast infiltration (43-62%), eosinophilia (5-19%) and atypical monocytic precursors (6-18%). Induction therapy consisted in one or two cycles of daunorubicin (or idarubicin), cytosine arabinoside and etoposide, followed by two cycles of consolidation treatment, the first with mitoxanthrone and cytosine arabinoside and the second with amsacrine and cytosine arabinoside. One patient died in the induction phase, while complete remission was obtained in the remaining 5. One patient died during the consolidation therapy. Allogeneic bone marrow transplant (BMT) was performed to one patient and autologous BMT to another. The first patient remains in complete remission (CR) at 68 months from diagnosis, and the second relapsed 12 months after BMT. Another patient relapsed at 13 months from diagnosis and the remaining persists in CR 13 months from diagnosis. Actuarial probabilities of CR duration and survival were 50% at 5 years. The clinico-biologic characteristics and the response to therapy of patients with AML4Eo inv(16) are similar to those referred in other series. There is a high probability of CR attainment and, probably, the relapse rate is lower than that of other subtypes of AML.
A family is described in which a pericentric inversion of chromosome 13 (13(p11 q22] was discovered after amniocentesis was performed in a patient with a previous stillborn child with multiple congenital abnormalities, and one surviving Down syndrome offspring with the maternal inversion and an additional trisomy 21. No association between pericentric inversion of chromosome 13 and other chromosomal abnormalities was found in the literature. This study discuss the possible involvement of this type of inversion in the occurrence of chromosomal and phenotypic alterations in the carrier offspring, as well as its role in genetic counseling and in the indication of prenatal diagnosis.
A paternal pericentric inversion of chromosome 4 was ascertained through karyotype analysis of an abortus specimen proven to be 46,XX,rec(4),dup q, inv (4)(p13q28). The relationship of paternal pericentric inversion to pregnancy loss is discussed, and a recommendation for karyotype analysis of recurrent abortion specimens is made.
A 36-year-old man with schizoaffective disorder was found to have a de novo 46 XY inv (9) (q31.2q34.3). Phenotypical abnormalities are short stature, depressed nasal bridge, hypertelorism and slender shoulders. Paracentric inversion of chromosome 9 is a rare chromosome aberration. This case suggests a new candidate region related to schizoaffective disorder.
We identified 18 patients with an inversion of chromosome 16, inv(16)(p13q22), among 308 patients with newly diagnosed acute nonlymphocytic leukemia. Each of these 18 patients had acute myelomonocytic leukemia (M4 subtype) and eosinophils with distinctly abnormal morphology, cytochemical staining, and ultrastructure. These eosinophils constituted from 1 to 33 per cent of the nucleated marrow cells. In our series, every patient with acute myelomonocytic leukemia and abnormal eosinophils also had an abnormal chromosome 16. This subgroup of M4 patients had a good response to intensive therapy designed to induce remission; 13 of 17 treated patients entered a complete remission, and 10 remain in first remission. Thus, patients with an inversion of chromosome 16 appear to represent a unique cytogenetic-clinicopathological subtype of acute nonlymphocytic leukemia with a favorable prognosis.
Haemophagocytic lymphohistiocytosis (HLH) is a severe disorder of early infancy consistent with an autosomal recessive inheritance. Neither the genetic locus nor the biochemical defect is known for the disease. A constitutional pericentric inversion of chromosome 9, with breakpoints in bands 9p23 and 9q31, has been reported in a case of HLH, suggesting a possible relationship between this chromosome abnormality and the disease. We investigated such an association, performing a genetic linkage analysis in a set of five consanguineous HLH families. 27 polymorphic markers on chromosome 9 were studied, excluding most of chromosome 9 as a putative site for the HLH gene.
Different subtypes of acute myelogenous leukemia have distinct clinical presentations and courses. The specific clinical and molecular aspects of these leukemias have helped modify and create specific strategies for their management. We observed an increased incidence of pulmonary complications in patients with acute myelomonocytic leukemias (AMML) with inversion of chromosome 16 [inv(16)] irrespective of the presence of hyperleukocytosis. We reviewed patient records available over a period of 12 years at The Cleveland Clinic Foundation of patients with AMML with inv(16) and compared the incidence of pulmonary complications to a matched control group of patients with AMML but without inv(16). We found an increased incidence of pulmonary complications in the AMML with inv(16)group when compared to the control group. Two of these patients demonstrated brochiolitis obliterans with organizing pneumonia (BOOP) on lung biopsy. No specific etiology for the pulmonary complications was identified. These findings represent the first observation of an association between WHO-AMML with inv(16) [FAB-AML M4 with inv(16)] with a pulmonary syndrome at presentation. BOOP should be suspected in these cases. A larger prospective study to evaluate this association is warranted.
A large, consanguineous Saudi family with three members with sialidosis type 1 and five members with infantile central nervous system spongy degeneration of the brain (ICNSSD, or Canavan-Bertrand-van Bogaert disease) is described. The patients with sialidosis had normal aspartoacylase activity, while neuraminidase activity in the patients with ICNSSD was reduced. All patients had normal carboxypeptidase activity in their fibroblasts. In an additional member there was photic-induced epilepsy, but he had normal enzymes. Two of the patients and one normal brother, but not the parents, had pericentric inversion of chromosome 9q. We postulate that an unidentified gene function is responsible for varied expression of these neurodegenerative diseases in this family.
We report the prenatal exclusion of partial trisomy in a family with maternal pericentric inversion of chromosome 21 by fluorescence in situ hybridization (FISH). After determining the structural rearrangement in the mother and her affected son with 46,XY,rec(21)dup(21q)inv(21)(p11q22) resulting in Down syndrome (DS), a chorionic villus sample from the current pregnancy was analysed for the copy number of the DS critical region with a cosmid contig. The signal distribution was normal and the cytogenetic analysis revealed that the fetus had inherited the inverted chromosome 21 in a balanced form. FISH probes specific for the DS region are of great value in supporting cytogenetic results, regardless of the structural status of chromosome 21.
Examination of chiasma distribution in the chromosome 1 in male mice homo- and heterozygous for distal inversion In(1)12Rk and in normal mice was carried out. No differences in chiasma distribution was found between homozygotes for the inversion and homozygotes for normal chromosome 1. A drastic change in this trait was revealed in heterozygous animals. In heterozygotes, the telomeric segments of SC were asynapsed and unavailable for recombination. This leads to significant decrease in the frequency of bivalents bearing chiasmata in pretelomeric region. In turn, it produced chiasma redistribution in proximal noninverted portion of the bivalent 1. These results could be interpreted as evidence for chromosomal control of chiasma distribution pattern: the distance of certain part of the chromosome from telomere and interference (which also operates at the chromosomal level) are more important for determination of the chiasmata frequency in the given region, than its genetic content.
Linear branching echogenicities in the thalamus or basal ganglia have been reported in infants with several genetic and nongenetic disorders. In this article, we report 2 cases of newborns with a neurosonographic diagnosis of thalamic/basal ganglia vasculopathy and karyotype analysis showing pericentric inversion of chromosome 2. To our knowledge, there has been no previous mention of an association between these entities.
Association of a chromosome aberration and psychiatric disorder can be useful in highlighting a genomic region that can be profitably explored further using positional cloning. We report the case of a father and daughter both of whom have bipolar disorder II and a pericentric inversion of chromosome 9.