Gene/Protein Disease Symptom Drug Enzyme Compound
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An unusual presentation of acute megakaryocytic leukemia (AMKL) is reported in two young children. The first child had a 10-day history of ptosis of the right eyelid as the initial manifestation of AMKL, a clinical picture not previously described in this variant of leukemia. Computed tomographic scanning showed multiple intracranial mass lesions, and the diagnosis of AMKL was confirmed by immunophenotyping of bone marrow blasts. The second child had Down syndrome and received alkylating agents and radiation therapy for treatment of metastatic rhabdomyosarcoma of the orbit. She had AMKL as second malignancy. Both patients had acquired chromosome 21 anomalies in their leukemic blasts. The first patient, constitutionally normal, had an i(21q) in his leukemic blasts; the patient with constitutional trisomy 21 had tetrasomy 21 and additional chromosomal changes. The clinical symptoms and the results of morphologic, immunologic, and cytogenetic studies are discussed.
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PMID:Acute megakaryocytic leukemia in children. Clinical, immunologic, and cytogenetic findings in two patients. 183 41

An infant is reported who presented with a de novo 21;21 translocation trisomy 21 and an atypical phenotype for Down syndrome (DS). Findings included microcephaly, small stature, downslanting palpebral fissures, absent Brushfield spots, moderate micrognathia, left ptosis, left torticollis, severe developmental delay, seizures, and hypertonia. Further clinical evaluation using both the diagnostic criteria for DS and the Jackson checklist of 25 signs was inconsistent with the diagnosis for DS. Blood karyotype revealed: 46,XX,+21,dic(21;21) (p11.2;p11.2). Fluorescence in situ hybridization (FISH) analysis confirmed the trisomy 21 translocation. Both parents had normal karyotypes. Chromosome and FISH analyses were performed on skin fibroblasts. These studies revealed mosaicism for a translocation trisomy 21 cell line as wel as a second cell line consisting of one normal chromosome 21 and a ring chromosome 21 derived from translocation 21q21q which appeared to have a deletion of the critical region for DS involving the distal portion of the thelong arm of chromosome 21. The chromosome findings illustrate an atypical phenotype in the spectrum of mosaic DS and suggest possible mechanisms for the variability of the phenotype. It also emphasizes the importance of evaluating other tissues for mosaicism when presented with atypical clinical findings.
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PMID:Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21. 1181 53

We describe an 8-years old female with supernumerary chromosome der(21)t(4;21)(q25;q22) resulting in partial trisomy 4q25-qter and partial trisomy 21(pter-q22). The extra material was originated from a reciprocal balanced translocation carrier mother (4q;21q). Karyotyping was confirmed by FISH using whole chromosome painting probes for 4 and 21q and using 21q22.13-q22.2 specific probe to rule out trisomy of Down syndrome critical region. Phenotypic and cytogenetic findings were compared with previously published cases of partial trisomy 4q and 21q. Our patient had the major criteria of distal trisomy 4q namely severe psychomotor retardation, growth retardation, microcephaly, hearing impairment, specific facies (broad nasal root, hypertelorism, ptosis, narrow palpebral fissures, long eye lashes, long philtrum, carp like mouth and malformed ears) and thumbs and minor feet anomalies. In spite of detection of most of the 3 copies of chromosome 21, specific features of Down syndrome (DS) were lacked in this patient, except for notable bilateral symmetrical calcification of basal ganglia. This report represents further delineation of the phenotype-genotype correlation of trisomy 4q syndrome. It also supports that DS phenotype is closely linked to 21q22. Nevertheless, presence of basal ganglia calcification in this patient may point out to a more proximal region contributing in its development in DS, or that genes outside the critical region may influence or control manifestations of DS features.
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PMID:Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome. 1771 Aug 74