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Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation

✍ Scribed by Yao Yang; Chunzhi Wang; Fang Wang; Lina Zhu; Haihong Liu; Xiyu He


Book ID
116508869
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
602 KB
Volume
502
Category
Article
ISSN
0378-1119

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Partial 9p monosomy in a girl with a tdi
✍ Serra, Angelo; Bova, Renato; Bellanova, Grazia; Chindemi, Antonino; Zappata, Ste πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 29 KB πŸ‘ 1 views

We report on a case with a partial monosomy for the regions 9p23 β†’ pter and 13p11 β†’ pter as a result of a de novo translocation (9p23;13p11). The patient, a 16year-old girl, has mental deficiency, obesity, and minor anomalies, including trigonocephaly, hypertelorism and a short, broad neck. Cytogene