American Academy of Pediatrics. Pediatric Practice Action Group and Task Force on Medical Informatics. Privacy protection and health information: patient rights and pediatrician responsibilities.

Pediatricians and pediatric medical and surgical subspecialists should know their legal responsibilities to protect the privacy of identifiable patient health information. Although paper and electronic medical records have the same privacy standards, health data that are stored or transmitted electronically are vulnerable to unique security breaches. This statement describes the privacy and confidentiality needs and rights of pediatric patients and suggests appropriate security strategies to deter unauthorized access and inappropriate use of patient data. Limitations to physician liability are discussed for transferred data. Any new standards for patient privacy and confidentiality must balance the health needs of the community and the rights of the patient without compromising the ability of pediatricians to provide quality care.

Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.

Interstitial deletions in the terminal region of chromosome 6 are rare. We describe three new cases with subtle interstitial deletions in the q24-q26 region of the long arm of chromosome 6. The karyotypes were analyzed at a 550 band level. Patient1 is a 9-month-old boy with an interstitial deletion, del(6)(q24.2q25.1), developmental delay, low birth weight, hypotonia, heart murmur, respiratory distress, craniofacial and genital anomalies. This is the first report of a case with deletion del(6)(q24.2q25.1). Patient 2 is a 17-year-old young man with an interstitial deletion del(6)(q25.1q25.3), developmental delay, short stature, mental retardation, autism, head, face, chest, hand and feet anomalies and a history of seizures. For the first time autism was described as a manifestation in 6q deletions. Patient 3 is baby boy with a de novo interstitial deletion, del(6)(q25.1q26), anomalies of the brain, genital organs, limbs and feet. This is the first report of a case with deletion, del(6)(q25.1q26). In all three patients, fluorescence in situ hybridization (FISH) using chromosome 6 painting probe ruled out an insertion. The ESR (6q25.1) and TBP (6q27) probes were used to confirm the breakpoints. Since TBP signal is present in all cases, it confirmed an interstitial deletion proximal to this probe. Patient 1 has a deletion of the ESR locus; Patient 2 and 3 have signals for the ESR locus on both chromosomes 6. Therefore the deletion in Patients 2 and 3 are between ESR and TBP loci distal to that of Patient 1. FISH validated the deletion breakpoints assessed by conventional cytogenetics.