We ascertained a newborn girl with multiple congenital anomalies including severe hypotonia, cardiovascular defects, hearing loss, central nervous system anomalies, and facial anomalies. The infant died at 12 days. Cytogenetic analysis showed a de novo supernumerary marker chromosome. Fluorescence i
Identification of de novo chromosomal markers and derivatives by spectral karyotyping
✍ Scribed by B. R. Haddad; Evelin Schröck; Jeanne Meck; Janet Cowan; Hannah Young; Malcolm A. Ferguson-Smith; Stanislas du Manoir; Thomas Ried
- Book ID
- 106137082
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 223 KB
- Volume
- 103
- Category
- Article
- ISSN
- 0340-6717
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