Category

Latest Research Articles

08
Feb

Common neuropsychiatric features in 22q11.2 deletion syndrome

  Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome 22q11.2 deletion is one of the most common microdeletion syndromes. The clinical features of this condition are broad and highly variable across physical, developmental, and mental health domains. This article analyzes neurological and psychiatric characteristics...
Read More
06
Feb

A small 7p22.3 microdeletion: Case report of SNX8 haploinsufficiency and neurological findings

A small 7p22.3 microdeletion: Case report of SNX8 haploinsufficiency and neurological findings 7p22.3 microdeletion, a small deletion within the short arm of chromosome 7, has been reported in the literature before, but the genotype-phenotype correlation remains uncertain. Clinical features in previous cases include developmental delay, intellectual disability, congenital heart disease,...
Read More
31
Jan

de novo 12q24.31 MODY3 diagnosis

  Molecular diagnosis of MODY3 reveals a de novo 12q24.31 deletion explaining a complex phenotype in a young diabetic patient Monogenic diabetes is present in 2-6% of pediatric patients and maturity onset diabetes of the young (MODY) is the most common form. MODY includes a number of heterogeneous disorders where...
Read More
1 2 3 9

You are donating to : Chromosome Disorder Outreach, Inc, a 501(c)(3) non-profit organization.

How much would you like to donate?
$25 $50 $100
Would you like to make regular donations? I would like to make donation(s)
How many times would you like this to recur? (including this payment) *
Name *
Last Name *
Email *
Phone
Address
Additional Note
Loading...