MCT8 deficiency, has been recently recognized to cause a severe form of X-linked mental retardation and neuromotor impairment in more than 150 individuals.  Full gene sequencing is available at The University of Chicago Genetic Services Laboratory and research on this condition is conducted in Dr. Samuel Refetoff's laboratory, also at The University of Chicago.  The condition is characterized by a unique combination of thyroid hormone (TH) test abnormalities.

Do you have a patient with congenital myopathy or congenital muscular dystrophy?  If yes, please help us build a database of patients and DNA to support clinical trials and improve efficiency of patient contact.  When you have patients collecting blood for genetic tests (like at the University of Chicago) please consider asking them to register in the CMDIR and simultaneously draw blood for the CMD BioBank.  Tell your patients to visi

Starting July 15, we will be offering an oligonucleotide microarray-based test for the detection of exonic deletions or duplications of 54 genes currently tested by sequence analysis in our laboratory.

A brother and sister of consanguineous Middle Eastern ancestry were seen in the neurogenetics clinic at the University of Chicago with a rare congenital microcephaly syndrome characterized by microcephaly with asymmetrical polymicrogyria (PMG) and severe developmental handicap.

The Center for Cornelia de Lange Syndrome and Related Diagnoses is the culmination of years of dedicated work by a core team of clinicians and investigators at The Children’s Hospital of Philadelphia, coupled with the passion and vision of parents and families of children born with Cornelia de Lange syndrome (CdLS) and related diagnoses. This Center was established to develop a comprehensive approach to treating and understanding, on a clinical and molecular level, developmental diagnoses.

5841 South Maryland, Room G701/MC0077
Chicago, IL  60637

Our laboratory is moving into new space this week!  We are very excited to be moving from the basement into some newly-renovated space on the 7th floor. 

Please note our new address for all shipments.

Our laboratory now has an IRB-approved Research Consent Form for patients that are interested in participating in further studies, should their clinical testing not reveal the etiology of their disorder.  We will no longer require a consent form for clinical testing.  Consent is only necessary, if the family wishes to be a part of possible studies in our laboratory after their clinical testing is completed. 

Jaeden was born in March 2009. He was a healthy baby boy with no initial issues, even scored an APGAR score of 7 when he was born.  At three months of age, Jaeden started to present with irritability, lack of eating and lack of weight gain,  inability to hold his head up (his head would always lean to one side-what I thought was torticollis) and poor central tone-hypotonia. As the months progressed, Jaeden’s developmental delays were becoming apparent, and we knew something wasn’t right.

Neonatal diabetes mellitus is a rare form of diabetes, occurring in about 1 out of every 100,000 live births. It can be transient, eventually disappearing on its own, or permanent, potentially causing health complications throughout a child’s life. Until recently, most babies with permanent neonatal diabetes mellitus were misdiagnosed with type 1 diabetes – the form of diabetes that usually appears in childhood.

By: Helga Toriello, PhD, FACMG