14
Nov
Neuropsychiatric phenotypes and ASD features in 3q29 deletion syndrome
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Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry The phenotype of 3q29 deletion syndrome is characterized mainly by neurodevelopmental and psychiatric features. Usually this syndrome is caused by a de novo deletion, typically 1.6 Mb, on chromosome 3. Although, it... Read More
07
Nov
Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
Phelan-McDermid Syndrome (PMS), also known as 22q13 Deletion Syndrome, is a rare genetic disorder caused by deletions in the 22q13.3 region involving the SHANK3 gene, Sometimes mutations in the SHANK3 gene may produce the same condition. Clinical features in patients broadly vary and include global developmental delay, intellectual disability... Read More
23
Sep
Silver-Russell Syndrome, 7p12 and the GRB10 gene
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations. Silver-Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth restriction, poor growth after birth, relatively large head, a triangular face with a prominent forehead, body asymmetry and feeding difficulties. SRS is genetically... Read More
18
Jul
Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome
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
