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Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7

✍ Scribed by Giorgio Adriano Paskulin; Mariluce Riegel; Rafael Fabiano Machado Rosa; Carla Graziadio; Paulo Ricardo Gazzola Zen

Book ID
116433332
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
916 KB
Volume
54
Category
Article
ISSN
1769-7212

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Interstitial deletion of chromosome 5 in
Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35)
✍ Gibbons, Barbara; Tan, Siew Yee; Kee, Su Keyau; Quaife, Roger; Lim, Seh Teen 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 3 views

We describe an infant girl with an interstitial deletion of chromosome bands 5q33 to 5q35 inherited from a maternal interchromosomal insertion ins(8;5)(p23;q33q35) which was demonstrated by fluorescent in situ hybridization with whole chromosome paints. Physical anomalies included hypertonicity, mic