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A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2

โœ Scribed by Desheng Liang; Lingqian Wu; Qian Pan; Naoki Harada; Zhigao Long; Kun Xia; Koh-ichiro Yoshiura; Heping Dai; Norio Niikawa; Fang Cai; Jiahui Xia


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
275 KB
Volume
140A
Category
Article
ISSN
1552-4825

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A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX,+der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal rec