Abstract
We report on a de novo constitutional rearrangement involving the long arm of chromosome 7 in a second trimester fetus with the karyotype of 46,XX, inv dup del (7)(pter-q36::q36-q21.2:) pat. Both a large duplication (q21.2- q36) and a small deletion (within q36) were confirmed by FISH studies. DNA analysis on the family showed that the abnormal chromosome was derived from a single paternal homolog. A mechanism is proposed in light of this finding. The phenotype at autopsy was consistent with reported cases of similar duplications in chromosome 7 in that hydrocephalus, a depressed nasal bridge, low set ears, microretrognathia and a short neck were present.
Original language | English (US) |
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Pages (from-to) | 76-81 |
Number of pages | 6 |
Journal | American journal of medical genetics |
Volume | 68 |
Issue number | 1 |
DOIs | |
State | Published - Jan 10 1997 |
Keywords
- 7q
- deletion
- duplication
- inverted
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)