TY - JOUR
T1 - Mosaic monosomy 21 syndrome
AU - Shiue, Chiou Nan
AU - Lin, Ying Hui
AU - Tsai, Wen Hui
AU - Chou, Yen Yin
AU - Tsai, Shang Chun
AU - Kuo, Pao Lin
AU - Lin, Shio Jean
PY - 2003/10
Y1 - 2003/10
N2 - Monosomy 21 is extremely rare in live-born infants. Although monosomy 21 mosaicism may be present in living individuals, the incidence is also low. Previously, 12 cases that were at first diagnosed as monosomy were reexamined and were reclassified as unbalanced translocations resulting in partial monosomy. In this report, we present a 15-month-old boy who suffered from growth retardation, psychomotor delay, and multiple anomalies, including microcephaly, a peculiar face, abnormal ears, and arthrogryposis. Chromosomal analysis demonstrated mosaicism of monosomy 21 in peripheral blood lymphocyte: 45,XY,-21 [7]/46,XY [93].
AB - Monosomy 21 is extremely rare in live-born infants. Although monosomy 21 mosaicism may be present in living individuals, the incidence is also low. Previously, 12 cases that were at first diagnosed as monosomy were reexamined and were reclassified as unbalanced translocations resulting in partial monosomy. In this report, we present a 15-month-old boy who suffered from growth retardation, psychomotor delay, and multiple anomalies, including microcephaly, a peculiar face, abnormal ears, and arthrogryposis. Chromosomal analysis demonstrated mosaicism of monosomy 21 in peripheral blood lymphocyte: 45,XY,-21 [7]/46,XY [93].
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M3 - Article
AN - SCOPUS:0141704340
SN - 1016-3190
VL - 15
SP - 337
EP - 340
JO - Tzu Chi Medical Journal
JF - Tzu Chi Medical Journal
IS - 5
ER -