Prenatal diagnosis of a partial 6q trisomy: A case report

Domenico Valerio, Anna Di Domenico, Maria Felicetti, Alfredo La Boccetta, Claudio Ferrara, Novelli Antonio, Antonio L. Borrelli

Research output: Contribution to journalArticle

Abstract

Objective: To present a case of partial 6q trisomy diagnosed prenatally. Method: A 28-year-old woman underwent genetic amniocentesis at 23 weeks of gestation on the detection of an enlarged nuchal fold (8.5 mm), which was the only clinical abnormality on routine ultrasound examination. Fetal karyotyping revealed a partial trisomy 6q (q21-q22) caused by a balanced maternal chromosomal insertion. Results: A female infant was delivered at 38 weeks of gestation. At birth, minor dysmorphisms were recorded, which included low set ears, macrocephaly and a webbed neck. At 17 months of age, neurological developmental assessment was normal. Conclusions: The appearance of phenotypic expression and clinical outcome of partial 6q trisomy depends on the specific chromosomal region involved in the segmental aneusomy.

Original languageEnglish
Pages (from-to)917-919
Number of pages3
JournalPrenatal Diagnosis
Volume26
Issue number10
DOIs
Publication statusPublished - Oct 2006

Keywords

  • 6q Partial trisomy
  • Chromosomal insertion
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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    Valerio, D., Di Domenico, A., Felicetti, M., La Boccetta, A., Ferrara, C., Antonio, N., & Borrelli, A. L. (2006). Prenatal diagnosis of a partial 6q trisomy: A case report. Prenatal Diagnosis, 26(10), 917-919. https://doi.org/10.1002/pd.1526