A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings.

@article{Mori2004APD,
  title={A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings.},
  author={Mar{\'i}a Angeles Mori and P Lapunzina and Alicia Delicado and G. Nunez and Jos{\'e} I. Rodriguez and Mar{\'i}a Luisa de Torres and Francisco Herrero and Eva Valverde and Isidora L{\'o}pez-Pajares},
  journal={American journal of medical genetics. Part A},
  year={2004},
  volume={127A 1},
  pages={69-73}
}
We report on a patient with a full monosomy 21 (FM21) prenatally diagnosed in cord fetal blood, and subsequently confirmed in other tissues. Subtle chromosomal translocations of chromosome 21, were ruled-out by FISH using both painting and 21q telomeric probes. Microsatellites analysis demonstrated the paternal origin of the single chromosome. The propositus showed at 32 weeks of gestation a severe intrauterine growth retardation and microcephaly. He was born with multiple congenital… CONTINUE READING