Article
Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome.
Journal of medical genetics - 1 Apr 1995
Woods C G, Leversha M, Rogers J G
Abstract excerpt
We report an infant with pre- and postnatal microcephaly and growth retardation, a distinctive face, and developmental delay. The initial diagnosis was of Seckel syndrome. He became pancytopenic at 16 months and died soon after. His bone marrow was of normal cellularity but had a small lymphocyte...
Topics
- Adult
- Cells, Cultured
- Chromosome Aberrations
- Chromosome Disorders
- Chromosome Fragility
- DNA Damage
- DNA Repair
- Drug Resistance
- Female
- Fetal Growth Retardation
- Fibroblasts
- Gestational Age
- Humans
- Infant
- Infant, Newborn
- Lymphocytes
- Male
- Mitomycin