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A Case of Partial Trisomy 9pter --> q13 due to Paternal Balanced Translocation t (9;21) (q13;q21)

Woo KS, Kim KE, Kwon EY, Kim JP, Han JY

Trisomy 9p is one of the most frequent autosomal anomalies compatible with a long survival rate. Clinical characteristics are craniofacial dysmorphisms including hypertelorism, prominent nose, deepset eyes, and down-slanting palpebral...
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Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents

Cho YG, Park TW, Lee CS, Choi SI

We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r (21) /i (21p13) mosaicism and rob (14; 21) ]. Molecular studies using...
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Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia

Kim J, Lyu CJ, Shin S, Lee ST, Choi JR

BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) is known to be associated with poor prognosis in B-cell ALL (B-ALL). To determine the frequency and clinical characteristics of iAMP21 in Korean...
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