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Your search keyword '"Chromosome deletion -- Risk factors"' showing total 6 results
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6 results on '"Chromosome deletion -- Risk factors"'

2. The gr/gr deletion(s): a new genetic test in male infertility?

Author

Giachini, C., Guarducci, E., Longepied, G., Degl'Innocenti, S., Becherini, L., Forti, G., Mitchell, M.J., and Krausz, C.

Subjects
Genetic screening -- Methods, Infertility, Male -- Diagnosis, Infertility, Male -- Genetic aspects, Chromosome deletion -- Analysis, Chromosome deletion -- Risk factors, Y chromosome -- Analysis, Health
Published
2005

3. C1q nephropathy in a child with a chromosome 13 deletion

Author

Roberti, Isabel, Sachdev, Sachin, Aronsky, Adam, and Kim, Dae Un

Subjects
Chromosome deletion -- Reports, Chromosome deletion -- Risk factors, Nephrotic syndrome -- Causes of, Nephrotic syndrome -- Diagnosis, Nephrotic syndrome -- Care and treatment, Nephrotic syndrome -- Case studies
Abstract

Abstract C1q nephropathy (C1qNP) is a rare cause of childhood nephrotic syndrome (NS). We describe a child with retinoblastoma, lipomyelomeningocele and a chromosome 13 deletion who presented with massive proteinuria [...]

Published
2006

5. Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms

Author

Shaikh, Tamim H., O'Connor, Ronald J., Pierpont, Mary Ella, McGrath, James, Hacker, April M., Nimmakayalu, Manjunath, Geiger, Elizabeth, Emanuel, Beverly S., and Saitta, Sulagna C.

Subjects
Nucleotide sequence -- Research, Chromosome abnormalities -- Research, Polymerase chain reaction -- Analysis, Chromosome deletion -- Risk factors, Genetic disorders -- Causes of, Health
Abstract

PCR and paralog-specific primers used to study distal chromosome 22q11.2 deletion breakpoints reveal low copy repeats (LCR) being responsible for the 22q11 deletions which mediate rearrangements causing genomic disorders.

Published
2007

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