Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat.


Journal Article (Review)

We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3-qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were localized and the regions of duplication and deletion were defined by fluorescence in situ hybridization (FISH) analysis using a series of locus-specific and subtelomeric probes. To our knowledge, only three cases involving a recombinant 7 with duplication of 7q have been reported, two of these being first cousins. The clinical findings in our patient included skeletal abnormalities, facial dysmorphism, dilated cerebral ventricles, microretrognathia and short neck. These findings and some aspects of the neonatal course were consistent with the phenotype previously reported for duplication of distal 7q, without associated monosomy for sequences from another chromosome.

Full Text

Cited Authors

  • Goodman, BK; Stone, K; Coddett, JM; Cargile, CB; Gurewitsch, ED; Blakemore, KJ; Stetten, G

Published Date

  • December 1999

Published In

Volume / Issue

  • 19 / 12

Start / End Page

  • 1150 - 1156

PubMed ID

  • 10590434

Pubmed Central ID

  • 10590434

Electronic International Standard Serial Number (EISSN)

  • 1097-0223

International Standard Serial Number (ISSN)

  • 0197-3851

Digital Object Identifier (DOI)

  • 10.1002/(sici)1097-0223(199912)19:12<1150::aid-pd733>;2-0


  • eng