Abstract
We report on a newborn girl with malformed ears, bilateral cleft lip and cleft palate, complex congenital heart disease, absent left thumb, and rib abnormalities. Cytogenetic analysis demonstrated a de novo interstitial deletion of the short arm of chromosome 1 [46,XX,del(1)(p21p22.3)]. Reports of interstitial deletions on the short arm of chromosome 1 are rare. However, when comparing this patient's phenotype to others with deletions of 1p, we found that the current case was much more severely affected than previously reported cases.
Original language | English |
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Pages (from-to) | 189-193 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics |
Volume | 71 |
Issue number | 2 |
DOIs | |
State | Published - Aug 8 1997 |
Keywords
- Chromosome 1p
- Chromosome abnormality
- Chromosome deletion
- Congenital heart disease
- Monosomy 1p
- Multiple congenital anomaly (MCA) syndrome