Interstitial deletion 2q31→q33
✍ Scribed by Buchanan, Philip D. ;Rhodes, Robin L. ;Stevenson, C. Edward ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 311 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0148-7299
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We report on a 2-year-old child with psychomotor retardation, facial and urogenital anomalies. His chromosome constitution was 4 6 m , de1(6)(q13q15). This case further contributes to the karyotype-phenotype correlation of proximal deletion 6q syndromes.
We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first patient with this chromosomal abnormality reported. He was born with minor anomalies, ambiguous genitalia, tracheomalacia, and he was developmen
We describe a malformed newborn girl with an interstitial deletion of the long arm of chromosome 2 (karyotype: 46, XX, del (2) (q31q33)). This is the first report of this particular chromosome abnormality that includes autopsy findings. Comparison with previous cases in the literature suggests that