Abstract
Author(s): PAWEÅ MADEJ1, ANTONI PYRKOSZ2, GRZEGORZ FRANIK1, ANNA CZECH-MADEJ3,SZYMON CZECH4, MARTYNAZBICIAK1
Chromosome 8 comprises around 155 million base pairs and loci of, approximately, 700-1000genes. Deletion 8p23 in the chromosome was described for the first time by Orye E. and CraenM. in 1976 [1]. An attempt to describe traits associated with partial monosomy of short armin chromosome 8 was undertaken by Rodewald A, Stengel-Rutkowski S, Schulz P. and CleveH [2]. The authors suggested that the traits formed a new malformation syndrome with in-tellectual deficiency and a delayed, slow physical development, with specific typical dysmor-phic traits, such as – Olympian forehead, broad chest with widely spaced nipples, abnormaldermatoglyphs, hypoplasia of genital organs and inborn errors of inner organs, mainly organsof circulatory system, including stenosis of pulmonary artery with defects in ventricular and/or atrial septum. Subsequent reports quoted also other defects, such as diaphragmatic hernia,microcephaly, defects in skeletal system and emotional disturbances.In the described case 18-year-old female patient is presented, with clinical traits of Meyer-Rokitansky-Küstner-Hauser syndrome (MRKH), manifesting a partial, interstitial deletion inthe short arm of chromosome 8-o (8p23.1).