Frederick W. Luthardt

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Karyotype-phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47,+13/46, 17/31 (54%) cases of 47,+18/46, 10/152 (6.5%) cases of 47,+20/46, and in 49/97 (50%) cases of(More)
It is sometimes difficult to evaluate reports of "nonrandom" chromosome involvement in certain malignant diseases, since the "random" or expected distribution is seldom defined. Therefore, we have developed methods for the statistical analysis of cytogenetic abnormalities in human cancer cells with modal karyotypes in the diploid range (35-57 chromosomes).(More)
Ectrodactyly (split hand/split foot malformation, SHSF) is a human limb malformation characterized by absent central digital rays, deep median cleft, and syndactyly of remaining digits. The disorder is genetically heterogeneous, with at least two loci thus far determined: an autosomal locus at 7q21 designated SHFM1 and an X-linked locus at Xq26 designated(More)
The murine transcription factor murine cyclin D-binding Myb-like protein (mDmp1) arrests the cell cycle in G1 phase, through an activity that can be overridden by direct interaction with the D-type cyclins. Here, we describe the identification, sequence, chromosomal localization, and expression of the human cognate, hDMP1. The hDMP1 cDNA contains a 2280bp(More)
Hyperechogenic bowel was identified among 55 of 6781 (0.81%) fetuses prior to second-trimester genetic amniocentesis. Trisomy 21 was found in eight of the 55 (14.5%) fetuses identified with hyperechogenic bowel compared to 60 of 6726 (0.89%) fetuses with normal bowel echogenicity (p < 0.001). Hyperechogenic bowel carried a 16-fold greater risk for Down's(More)
PURPOSE The Southwest Oncology Group performed a Phase II study to investigate the effectiveness of an induction regimen of high dose cytosine arabinoside (ara-C) with high dose mitoxantrone for treatment of relapsed or refractory adult acute lymphoblastic leukemia (ALL). PATIENTS AND METHODS Patients at least 16-years-old with ALL that was in relapse(More)
STUDY OBJECTIVE To investigate the correlation among the level of anxiety, the intravenous propofol requirement for conscious sedation, and recovery profile in in vitro fertilization patients. DESIGN Prospective, randomized, double-blinded study. SETTING Operating room of tertiary-care university hospital. PATIENTS One hundred fifty consecutive women(More)
Trisomy 15 as the sole karyotypic aberration is an uncommon clonal cytogenetic aberration in hematological malignancies, making its significance unclear. Previous studies have reported relations of trisomy 15 with low-grade myelodysplasia or a benign age-related phenomenon associated with loss of the Y chromosome. To define the significance of trisomy 15,(More)