A prenatally recognizable malformation syndrome associated with a recurrent post-zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21).
Several cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY with multiple anomalies have been reported. I report on an additional case of a male fetus with a mosaic male karyotype mos 46,X,der(Y)t(Y;1)(q12;q21)[31]/46,XY[21] and multiple anomalies that included "teardrop"-shaped head with a triangular face, a short-nasal bridge with upturned nose, microretrognathia, microtia, kyphoscoliosis, oligodactyly, syndactyly, joint contractures, CNS malformation, omphalocele, diaphragmatic hernia, cardiac anomaly, and urogenital malformation. The findings together suggest a recurrent and recognizable syndrome and argue for using tissues such as skin or cartilage or amniotic fluid, instead of cord blood, for postmortem karyotyping in order to avoid missing mosaicism as a potential cause of multiple congenital anomalies.
Li
Chumei
C
Clinical Genetics Program, McMaster University Medical Center, Hamilton, Canada. lichum@mcmaster.ca
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y; D005333:Fetus; D015321:Gene Rearrangement; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D008297:Male; D009030:Mosaicism; D012008:Recurrence; D014178:Translocation, Genetic; D016216:Ultrasonography, Prenatal / Q000379:methods*