Ramos-Arroyo M A, de Miguel C, Valiente A, Moreno-Laguna S
Department of Medical Genetics, Hospital Virgen del Camino, Pamplona, Spain.
Am J Med Genet. 1994 Apr 1;50(2):177-9. doi: 10.1002/ajmg.1320500208.
We report on a baby with holoprosencephaly, median cleft lip, cardiac and genital anomalies, normal upper limbs, and a 46,XX karyotype. We also reviewed 22 karyotypically normal cases whose clinical features resembled trisomy 13 syndrome and compared them with the case we present. The problem of variable expression of the pseudotrisomy 13 syndrome versus genetic heterogeneity is illustrated.
我们报告了一名患有全前脑畸形、正中唇裂、心脏和生殖器异常、上肢正常且核型为46,XX的婴儿。我们还回顾了22例核型正常但临床特征类似13三体综合征的病例，并将它们与我们所呈现的病例进行了比较。这说明了假13三体综合征可变表达与基因异质性的问题。
