By

Linda Sorg

15
Jul

22q11.2 duplication, bladder exstrophy and the LZTR1 gene

22q11.2 duplication, bladder exstrophy and the LZTR1 gene Bladder exstrophy is a rare birth defect resulting in the malformation of the bladder and urethra. It is part of the bladder exstrophy-epispadias complex (BEEC). In several previously published reports children with bladder exstrophy were found to have duplications of the 22q11.2...
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08
Jul

Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome 10q23 microdeletions

Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a genetic condition characterized by large head size, hamartomas, intestinal polyposis, and genital pigmentation. Intellectual disability is found is around half of BRRS patients as well. This disorder...
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23
Apr

Spring 2019 Newsletter – Issue No. 83

‘Seeing’ the first signs of Spring My daughter Elizabeth turned 27 in March. Along with coping with many other physical and medical challenges, Elizabeth is also visually impaired (see full issue for a resource that she really loves). Since she is non-verbal, it has always been difficult to determine the...
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18
Apr

Chromosome 15q14 deletions and loss of the MEIS2 gene

This summary discusses chromosome 15q14 deletions and the loss of the MEIS2 gene. 15q14 deletions (deletions occurring within this region of the long arm of chromosome 15) are known to cause cleft palate, intellectual disability, congenital heart defects, and facial dysmorphism. Loss of the MEIS2 gene located within 15q14 has...
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