Kitsiou S, Bartsocas C S, Alexiou D, Mourtzinis D
Pediatr Pathol. 1986;6(2-3):161-5. doi: 10.3109/15513818609037708.
A newborn girl with Wolf-Hirschhorn syndrome and 46, XX, del (4) (p15) de novo karyotype is described. Unusual pathologic and histologic findings were observed at autopsy in the cardiovascular, respiratory, alimentary, and urogenital systems. Of over 100 cases reported in the literature, only 18 include pathologic findings.
本文描述了一名患有沃尔夫-赫希霍恩综合征且核型为46, XX, del(4)(p15)的新生女婴,该核型为新发突变。尸检时在心血管、呼吸、消化和泌尿生殖系统观察到异常的病理和组织学发现。在文献报道的100多例病例中,仅有18例包含病理检查结果。