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Objective To reveal the chromosome abnormalities and their relationship with the clinical phenotype of neonates with congenital malformation.Methods Karyotype analysis of peripheral blood lymphocytes was performed on 396 newborns with congenital malformation,who were recruited at the Children's Hospital Affiliated to Soochow University from Jan.2006 to May 2012,chromosome karyotypes were prepared with neonatal peripheral lymphocytes by conventional G-banding technique.Results 1.Of 396 newborns,159 (40.2％) cases were detected to have chromosomal abnormalities,including karyotype first reported domestically and internationally in 3 cases.2.Trisomy-21 (Down's syndrome),which was the most common abnormal karyotype,was seen in 130 cases,accounting for 81.8％,of whom 119 cases show the standard type,10 cases accompanied by the Robertsonian translocation involving group D or group G,and 1 case accompanied by sexual chromosomal abnormality:inv(Y) (p1 1 q 1 1),+ 21.3.Other common karyotype abnormalities were as follows:del (5) (p 1 2-14) (cats cry syndrome) in 4 cases,trisomy-18 (Edwards syndrome)in 4 cases,45,XO (Turner' s syndrome) in 4 cases,inv (9) (p1 1 q1 2-21) in 4 cases,trisomy-X (super female syndrome) in 1 case,rob(13;14) in 1 case,trisomy-8 in 1 case and del(18) (q22) in 1 case.4.Special faces were seen in 147 cases (92.5 ％),congenital heart disease in 97 cases (61.0％),low birth weight in 72 cases (45.3 ％),congenital anal atresia in 13 cases(8.1％),multiple malformations in 11 cases (6.8％),intestinal malformations in 10 cases (6.2％),extrinsic genital abnormalities in 9 cases(5.7％),meow-like cry in 4 cases(2.5％),limb edema in 4 cases (2.5％),fingers and toe abnormalities in 6 cases(3.6％),congenital brain dysplasia in 6 cases (3.6％),webbed neck in 5 cases(3.1％) and cleft lip and palate in 3 cases(1.8％).Conclusions Chromosomal abnormality is an important factor leading to neonatal birth defects,of which special face,congenital heart disease,low birth weight,and multiple malformations are the main clinical manifestations of chromosomal diseases.
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Objective To report two childhood acute myeloid leukemia (AML) patients with t(8;20)(q22;q13) and t(1;8;21)(q32;q22;q22) respectively,as variant t(8；21).Methods Chromosome preparation of bone marrow cells were made using short-term culture and karyotypic analysis was carried out using R and G-banding techniques.Interphase-fluorescence in situ hybridization (I-FISH) and metaphase-FISH (M-FISH) were performed using dual color,dual fusion AML1-ETO probe to detect the AML1-ETO fusion gene.Multiplex RT-PCR was used to demonstrate the expression of AML1-ETO fusion transcript.Results The karyotype of bone marrow cells for these two childhood AML patients were 45,X,-Y,t(8;20)(q22;q13)[12]/46,XY[3](case 1) and 46,XX,t(1;8;21)(q32；q22;q22)[18]/46,XX[2](case 2),respectively.I-FISH and M-FISH confirmed that they all had the AML1-ETO fusion gene and variant t(8;21).The AML1-ETO fusion transcript in both patients was detected by RT-PCR.Conclusion t (8;20)(q22;q13) and t (1;8;21)(q32;q22;q22) are variant t (8;21) in nature.It is important to combine the conventional karyotypic analysis with D-FISH and multiplex RT-PCR to determine the nature and prognosis of AML patients with variant t(8;21).
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<p><b>OBJECTIVE</b>To investigate the clinical and biological characteristics of childhood acute myeloid leukemia(AML)with 8;21 translocation.</p><p><b>METHODS</b>A retrospective analysis including clinical information, cell morphology, chromosome, immunophenotype and molecular biology was performed on 41 cases of childhood t(8;21)AML. The control group included 19 cases of AML without t(8;21) translocation detected during the same period.</p><p><b>RESULTS</b>The 41 cases of t(8;21)AML accounted for 68.3% of 60 continuous childhood AML patients. Among them, classical t(8;21) translocation was seen in 29 cases; variant t(8;21) translocation, simple 8q-, near-tetraploidy characterized by the duplication of t(8;21) translocation each came into view in 2 cases; and cryptic t(8;21) translocation was seen in 6 cases. Thirty seven cases (80.4%) belonged to M2 subtype of AML. Most of them had the morphological changes such as the leukemia cells' indent nucleus with a light stain region of perinucleus, basophilic cytoplasm, differentiation with maturation, megaloblastoid changes and nuclear-cytoplasm imbalance; the high expression of CD13 antigen; and the AML1/ETO fusion transcript in 23 cases examined by reverse transcription-polymerase chain reaction (RT-PCR) assay, including 6 cases with normal karyotype. The difference in complete remission rate between t(8;21) positive patients group and t(8;21) negative patients group was not significant in statistics (82.4% vs 75%, P>0.05). However the difference in recurring rate of the leukemia was statistically significant (10.7% vs 41.7%, P<0.05).</p><p><b>CONCLUSION</b>t(8;21)AML is the most frequent type of childhood AML. It is predominantly associated with M2 subtype of AML and has unique morphological, immunological prognostic features .</p>