18
Jul
Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome
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Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome Cri-du-chat syndrome (CdCs) is caused by a deletion of the distal part of the short arm of chromosome 5. The clinical characteristics of CdCs are well known and include a cat-like cry, psychomotor delay, intellectual disability, microcephaly and dysmorphic... Read More
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... Read More
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... Read More
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... Read More
18
Apr
Prenatal profile of Pallister-Killian Syndrome
Determining a prenatal profile for Pallister-Killian Syndrome leads to earlier genetic counseling and symptom management. Pallister-Killian syndrome (PKS) is a genetic condition which results in a variety of symptoms, including facial dysmorphisms, skin discolorations, intellectual disability, developmental delay, congenital heart defects, congenital diaphragmatic hernia (abdominal hernias that occur in fetuses),... Read More
