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Familial pericentric inversion of chromosome 1 in a boy with Goldenhar's syndrome

✍ Scribed by Ch. Stahl-Maugé; P. Weiss-Wichert; P. Propping

Publisher
Springer
Year
1982
Tongue
English
Weight
40 KB
Volume
61
Category
Article
ISSN
0340-6717

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An inversion of chromosome 1 was found in three normal members of a two generation family. G- and C-banding studies revealed inv(1)(p13q23). The problems encountered in counseling such normal carriers are discussed.

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A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9
✍ Bernhard Zabel; Susanne Hansen; Ulrike Hillig; Helga Gröting-Imhof 📂 Article 📅 1977 🏛 Springer 🌐 English ⚖ 310 KB

A girl with 46, XX, de1 (11) (q23), inv (9) (p13,q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13,q13)).