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

Barbara K. Goodman, Kristyne Stone, Jomo M. Coddett, Colyn B. Cargile, Edith D. Gurewitsch, Karin J. Blakemore, Gail Stetten

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11 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1150-1156
Number of pages7
JournalPrenatal Diagnosis
Volume19
Issue number12
DOIs
Publication statusPublished - Dec 16 1999
Externally publishedYes

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Keywords

  • Duplication 7q
  • Partial trisomy 7q
  • Pericentric inversion
  • Recombinant chromosome

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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