Pericentric inversion inv(7)(p11q21.1): report on two cases and genotype-phenotype correlations

• Published in: Цитология и генетика
• Date: 2006
• Main Authors: Vorsanova, S.G., Iourov, I.Y., Demidova, I.A., Kolotii, A.D., Soloviev, I.V., Yurov, Y.B.
• Format: Article
• Language: English
• Published: Інститут клітинної біології та генетичної інженерії НАН України 2006
• Subjects: Оригинальные работы
• Online Access: https://nasplib.isofts.kiev.ua/handle/123456789/82051
• Journal Title: Digital Library of Periodicals of National Academy of Sciences of Ukraine
• Cite this: Pericentric inversion inv(7)(p11q21.1): report on two cases and genotype-phenotype correlations / S.G. Vorsanova, I.Y. Iourov, I.A. Demidova , A.D. Kolotii, I.V. Soloviev, Y.B. Yurov // Цитология и генетика. — 2006. — Т. 40, № 3. — С. 45-48. — Бібліогр.: 8 назв. — англ.

We report on two unrelated cases of pericentric inversion 46,XY,inv(7)(p11q21.1) associated with distinct pattern of malformation including mental retardation, development delay, ectrodactyly, facial dismorphism, high arched palate. Additionally, one case was found to be characterized by mesodermal...