Ectro-amelia syndrome associated with an interstitial deletion of 7q
โ Scribed by Morey, Martha A. ;Higgins, Rodney R.
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 364 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0148-7299
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We report on a 7-month-old boy with interstitial deletion of 6q21-q23 and split-hand defect. He died at 7 months. This is the fifth patient with distal limb anomaly associated with a rearrangement of 6q21 region, and supports previous suggestions that there may be candidate gene(s) for distal limb d
## 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