Anne Mitchell sensed something was not quite right when the fetus in her first pregnancy did not move as she had been told to expect.  When her son Michael was born, he was extremely hypotonic and weak, requiring immediate intubation and a trip to the NICU.  Without any family history of similar issues, Anne and David Mitchell did not have any idea why Michael’s muscles were so weak.  After various tests all came back negative, Michael had a muscle biopsy at 4 weeks of age and was diagnosed with centronuclear myopathy.  

The University of Chicago provides testing of the TCF4 gene for Pitt Hopkins syndrome. www.pitthopkins.org is an organization established by two families to help others with this diagnosis.  Below is an article by one of the founders, Sue Routledge, that introduces you to her experience with the creation of their support group organization:

Come visit us in the exhibitor hall at the 2012 American College of Medical Genetics Annual Clinical Meeting in Charlotte, NC

March 28-30, Charlotte Convention Center, Booth 413

Copy number variations (CNVs) have been well documented to contribute significantly to some genetic disorders; however their frequency is currently not well established in many rare conditions. Here we describe the development, validation and clinical implementation of a custom oligonucleotide-based array CGH platform for the detection of exonic deletions and duplications in 54 genes, primarily implicated in neurodevelopmental disorders, for which our laboratory currently offers clinical sequence analysis.

Autosomal recessive primary microcephaly (MCPH) is characterized by congenital microcephaly and mental retardation (MR) with no other neurological findings.  Mutations in the ASPM gene are the most common etiology of MCPH, causing approximately 40% of cases with a strict diagnosis of MCPH.  Several other genes, including CDK5RAP2, CENPJ, MCPH1, STIL, and CEP152 have been reported to cause MCPH in a small number of families.  These genes are all thought to play a role in cell division.  

We report a unique neurodegenerative disorder characterized by early-onset epilepsy, ataxia, progressive cognitive decline and retinitis pigmentosa (RP) in a highly consanguineous family of Pakistani origin. Affected members are three siblings including a 28-year-old male, 23-year-old female, and 15-year-old male, as well as their 30-year-old female cousin, clearly suggesting an autosomal recessive disorder. All affected individuals experienced a highly similar clinical course characterized by juvenile-onset seizures, retinitis pigmentosa and cognitive decline.

The burgeoning utility of microarray-based comparative genomic hybridization has led to the characterization of a novel 4q21 microdeletion syndrome.  The literature to date reports several major features common to patients with 4q21 microdeletion syndrome including neonatal muscular hypotonia, severe psychomotor retardation, marked progressive growth restriction, absent or severely delayed speech and distinctive facial features.

Human tails are rare congenital anomalies typically noted in otherwise normal infants.  We present a two-day-old male born by vaginal delivery at full term to a 25-year-old G3P2 mother.  Both parents were of non-consanguineous, Hispanic ancestry. There were no known teratogenic exposures during the pregnancy.  Birth weight, length, and head circumference were all within the 50^th to 75^th percentiles.

Medical education has progressively moved towards curricula that feature concept-based courses, decreased lecture time, discipline integration, and increased small-groups with active learning. In response many medical schools have developed integrated courses where medical genetics is integrated with biochemistry, cell biology or both. An additional challenge is to provide clinical relevance to the basic science curriculum. Medical students are also challenged with a transition in learning and problem solving.