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Familial inversion of chromosome No. 8

✍ Scribed by Atsuko Fujimoto; Miriam G. Wilson; Joseph W. Towner

Publisher: Springer
Year: 1975
Tongue: English
Weight: 410 KB
Volume: 27
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00283508

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✦ Synopsis

An infant with multiple congenital anomalies was found to have a duplication-deficiency disorder involving chromosome No. 8. The abnormality was identified as an unbalanced recombinant inherited from the mother who was a carrier of a pericentric inversion of chromosome No. 8. The inversion was observed in several members of this family, including a fetus who was diagnosed by an amniocentesis. The inverted chromosome was demonstrated only with the use of a differential staining technique, in this case, by trypsin-Giemsa banding.

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