Fagan K, Gill A
Cytogenetics Laboratory, Mater Hospital, Waratah, Australia.
J Med Genet. 1989 Oct;26(10):644-7. doi: 10.1136/jmg.26.10.644.
A unique case of de novo interstitial deletion of chromosome 4 is described involving loss of band q21. The male newborn had multiple abnormalities including frontal bossing, prominent occiput, low set ears, micrognathia, short sternum, short, broad hands and feet, agenesis of the corpus callosum, and cardiac defects. The phenotypic abnormalities are compared with other reported cases of deletion 4q involving adjacent regions.
描述了一例4号染色体新生间质性缺失的独特病例，涉及q21带的缺失。该男性新生儿有多种异常，包括前额突出、枕部突出、耳朵低位、小颌畸形、胸骨短、手足短而宽、胼胝体发育不全和心脏缺陷。将这些表型异常与其他报道的涉及相邻区域的4q缺失病例进行了比较。
