[Familial presentation of microdeletion and inverted microduplication with array-CGH].

INTRODUCTION. Over the years the field of genetics has advanced significantly. Following the polymerase chain reaction and mass sequencing techniques, the array-CGH technique (comparative genomic hybridization) has helped to improve genetic procedures.

[Back-of-the hand venepuncture. An alternative to heel puncture?].

Introduction: Using heel puncture by lancets for the determination of metabolic tests (hypothyroidism and phenylketonuria) using heel puncture is a very painful procedure. Venepuncture can be used as an alternative.

Objectives: To determine whether venepuncture in the dorsal side of the hand is less painful and more efficient than heel puncture in the screening test for inborn errors of metabolism, as well as comparing false positives in the hypothyroidism test.