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A paternally derived inverted duplication of 7q with evidence of a telomeric deletion

✍ Scribed by Stetten, Gail; Charity, Lawrence L.; Kasch, Laura M.; Scott, Alan F.; Berman, Cindy L.; Pressman, Eva; Blakemore, Karin J.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 175 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970110)68:1<76::aid-ajmg15>3.0.co;2-l

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✦ Synopsis

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.

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