Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2
β Scribed by Katerina Jedlickova; David W Stockton; Josef T Prchal
- Book ID
- 117726565
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 199 KB
- Volume
- 31
- Category
- Article
- ISSN
- 1079-9796
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We report on an 18-year-old man with moderate mental retardation, multiple congenital anomalies and partial trisomy 7q21.2-->q22.1, as the unbalanced product of a familial balanced 7q/6q insertion translocation. To the best of our knowledge, this is the first example of interstitial trisomy 7q21.2--
## Abstract Complex chromosomal rearrangements with more than two breakpoints are rare. We report on a 5βyearβold girl, evaluated because of psychomotor delay, ectrodactyly of right hand and feet, craniofacial dysmorphic features, cleft palate, deafness, and tetralogy of Fallot. A standard karyotyp