## Abstract Specific genetic loci responsible for CHARGE association are currently unknown. Herein, we describe a neonate with clinical manifestations consistent with CHARGE association who has a de novo interstitial deletion involving bands 8q11.2 to 8q13. Genetic mapping and genomic microarray te
Interstitial deletion of chromosome 13 and associated congenital anomalies
โ Scribed by Warren W. Nichols; Robert C. Miller; Elizabeth Hoffman; Daniel Albert; Ralph R. Weichselbaum; John Nove; John B. Little
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 400 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
โฆ Synopsis
An interstitial deletion of chromosome 13 with breakpoints at 13q22 and 13q32 is presented. The clinical findings associated with this deletion are discussed in relation to the correlations of specific chromosomal bands with constellations of congenital defects as described by Niebuhr and Ottosen (1973), Niebuhr (1977). Lewandowski and Yunis (1975), and Noel et al. (1976).
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