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Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2)

โœ Scribed by T. Oda; A.G. Elkahloun; P.S. Meltzer; K. Okajima; K. Sugiyama; Y. Wada; S.C. Chandrasekharappa


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
129 KB
Volume
16
Category
Article
ISSN
1059-7794

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โœ Chih-Ping Chen; Schu-Rern Chern; Chen-Chi Lee; Dai-Dyi Town; Wen-Lin Chen; Wayse ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 185 KB ๐Ÿ‘ 3 views

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