Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl

<p>Abstract</p> <p>Background</p> <p>Partial trisomy of the short arm of chromosome 9 is among the most common autosomal structural chromosomal anomalies leading to chromosomal imbalance in human. Clinical characteristics are craniofacial dysmorphism including hypertelorism, prominent nose, deep-set eyes, and down-slanting palpebral fissures. The degree of clinical severity in partial trisomy 9p roughly correlates with the size of the chromosomal imbalance. Therefore, breakpoints as well as clinical findings need to be precisely defined for differential diagnosis.</p> <p>Results</p> <p>Chromosomes of a young female were analyzed due to primary amenorrhea, short stature, developmental delay and a characteristic facial appearance. Cytogenetic analysis using GTG banding identified a karyotype 46, XX, add(9pter). Surprisingly the application of high resolution molecular cytogenetic techniques characterized a partial trisomy 9p24.2-p22 and partial monosomy 9pter-p24.2. To the best of our knowledge only four similar case were reported by now.</p> <p>Conclusion</p> <p>Attempts for genotype-phenotype correlations for partial trisomy 9p might have been hampered by the fact that more complex, cryptic aberrations were neither considered nor detected in comparable clinical cases.</p

Biclonal myelodysplastic syndrome involving six chromosomes and monoallelic loss of RB1 - A rare case

<p>Abstract</p> <p>Background</p> <p>Myelodysplastic syndrome (MDS) represents a group of clonal hematological disorders characterized by progressive cytopenia, and reflects to defects in erythroid, myeloid and megakaryocytic maturation. MDS is more frequently observed in older aged patients with cytogenetic abnormalities like monosomy of chromosome(s) 5 and/or 7. In 50% of de novo MDS cases, chromosomal aberrations are found and rearrangements involving the retinoblastoma (<it>RB1</it>) gene in 13q14 are found.</p> <p>Results</p> <p>Here, we are presenting a case report of a rare biclonal MDS with a karyotype of 45, XY,-4, der(6)t(4;6)(p15.1;p21.3), der(8)t(4;8)(q31.2;q22), t(13;16)(q21.3;p11.2)<abbrgrp><abbr bid="B11">11</abbr></abbrgrp>/45, XY, der(7)t(7;13)(p22.2~22.3;q21.3),-13 <abbrgrp><abbr bid="B9">9</abbr></abbrgrp>. The patient was diagnosed according to WHO classification as refractory anemia with excess of blasts (RAEB-II).</p> <p>Immunophenotyping was positive for CD11b, CD11c, CD10, CD13, CD15, CD16 and CD33.</p> <p>Conclusion</p> <p>We report, a novel and cytogenetically rare case of a biclonal MDS with complex chromosomal aberrations and deletion of <it>RB1</it>-gene in both clones. These findings are associated with a poor prognosis as the patient died 3 months after diagnosis.</p

A rare case of chronic myeloid leukemia with secondary chromosomal changes including partial trisomy 17q21 to 17qter and partial monosomy of 16p13.3

<p>Abstract</p> <p>Background</p> <p>The so-called Philadelphia (Ph) chromosome is present in almost all cases with chronic myeloid leukemia (CML). Around 5-10% of these patients show complex translocations involving other chromosomes in addition to and/or besides chromosomes 9 and 22. As nowadays most CML cases are treated with Imatinib, variant rearrangements have in general no specific prognostic significance, though events of therapy resistance remain to be studied.</p> <p>Results</p> <p>Here we report a Ph chromosome positive patient with hematological typical chronic phase CML. Untypically, an unbalanced complex rearrangement involving chromosomes 16 and 17 leading to a deletion of 16pter and partial trisomy of 17q21 to 17qter, was identified besides a trisomy 8 and an additional Ph chromosome in a part of malignant cells.</p> <p>Conclusion</p> <p>Here a novel and cytogenetically unique case of a Ph chromosome positive CML clinically in chronic phase is reported, having complex secondary chromosomal aberrations. Thus, CML patients with complex chromosomal changes are nonetheless treatable by Imatinib.</p

Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: a case report

<p>Abstract</p> <p>Background</p> <p>The well-known typical fusion gene BCR/ABL can be observed in connection with a complex translocation event in only 2-10% of cases with chronic myeloid leukemia (CML). As currently most CML cases are treated with Imatinib, variant rearrangements have in general no specific prognostic significance, though the emergence of therapy resistance remains to be studied.</p> <p>Results</p> <p>Here we report an exceptional CML case with complex chromosomal aberrations not observed before, involving a 5 chromosome translocation implying chromosomal regions such as 1q42, 4p14 and 5q31 besides 9q34 and 22q11.2.</p> <p>Conclusion</p> <p>The reported rearrangement developed most probably in one initial step and had no influence on a good response during Imatinib treatment.</p

A novel heterozygous variant in exon 32 of the CHD7 gene (c.6923C>T) in a Syrian family with Kallmann syndrome

To report a paternal transmission of a variant in exon 32 of the CHD7 gene (c.6923C>T) in a familial case originally suggested to be affected by K

A novel heterozygous variant in exon 32 of the CHD7 gene (c.6923C>T) in a Syrian family with Kallmann syndrome

To report a paternal transmission of a variant in exon 32 of the CHD7 gene (c.6923C>T) in a familial case originally suggested to be affected by K