47,+(9q-) in unrelated three children with plasma growth hormone deficiency.
Marker chromosomes carried by unrelated 3 cases were identified as a part of No. 9 chromosome through the analysis of the chromatid fine structure after trypsin-giemsa treatment. They showed characteristic features of that 9p trisomic syndrome which were described by Rethoré et al. (1973). In addition to those features, some clinical and laboratory findings on growth hormon deficiency were disclosed in this report.
D002648:Child; D002675:Child, Preschool; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D004393:Dwarfism, Pituitary / Q000235:genetics; D005260:Female; D006128:Growth; D013006:Growth Hormone / Q000172:deficiency* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D010901:Pituitary Function Tests; D014314:Trisomy
D013006:Growth Hormone