Partial trisomy 20p resulting from a recombination of a familial pericentric inversion
β Scribed by N. Bown; I. Cross; E. V. Davison; J. Burn
- Publisher
- Springer
- Year
- 1986
- Tongue
- English
- Weight
- 400 KB
- Volume
- 74
- Category
- Article
- ISSN
- 0340-6717
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## Abstract We report on a newborn girl with duplication of 18q12.2β18qter and deficiency of 18p11.2β18pter which resulted from meiotic recombination of the maternal pericentric inversion, inv(18) (p11,2q12.2). Her clinical manifestations were compatible with those of partial trisomy 18q syndrome.
A structural X chromosome abnormality was found in the karyotype of a tall patient with gonadal dysgenesis and with no extragenital anomalies. Based on her mother's karyotype, which showed a pericentric inversion of the X chromosome: 46,X,inv(X)(p22q24), as well as from G and R banding, we concluded
A 7 3/4-year-old girl with short stature was found to have a recombinant (X),dup q chromosome resulting from an apparently unique pericentric inversion (X)(p11.2q26) present in her mother and maternal grandmother. The recombinant X chromosome was shown to be late replicating and the inversion X chro