On 30 August 2011, Jess was diagnosed with a micro duplication on the short arm of one of her X Chromosomes (Xp21.1-Xp11.21). This duplicated region contains 208 genes.
This diagnosis was achieved with a CGH Microarray performed at the Salisbury District Hospital in the UK and then confirmed in a second test using BAC fluorescence in situ hybridization (FISH).
Females have two X chromosomes. One of the X chromosomes is usually active and the other is inactive. The majority of female carries of an Xp duplication would be expected to preferentially inactivate the duplicate X chromosome and thereby be phenotypically normal. In Jess's case, the duplication affected the active chromosome. It has been reported that females with this duplication exhibit borderline to severe mental handicap, speech delay, EEG abnormalities, minor dysmorphic features and early puberty as a result of the duplicated X being predominantly active.
Further studies were performed to ensure that this genetic condition was not inherited.
Information obtained from Wessex Regional Genetics Laboratory Reports
This diagnosis was achieved with a CGH Microarray performed at the Salisbury District Hospital in the UK and then confirmed in a second test using BAC fluorescence in situ hybridization (FISH).
Females have two X chromosomes. One of the X chromosomes is usually active and the other is inactive. The majority of female carries of an Xp duplication would be expected to preferentially inactivate the duplicate X chromosome and thereby be phenotypically normal. In Jess's case, the duplication affected the active chromosome. It has been reported that females with this duplication exhibit borderline to severe mental handicap, speech delay, EEG abnormalities, minor dysmorphic features and early puberty as a result of the duplicated X being predominantly active.
Further studies were performed to ensure that this genetic condition was not inherited.
Information obtained from Wessex Regional Genetics Laboratory Reports