Prenatal diagnosis of a de novo trisomy 6q22.2 → 6qter and monosomy 1pter → 1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q

Anita S. Kulharya, Mary E. Carlin, William A. Stettler, Martine Huslig, Mary K. Kukolich, Jaime Garcia-Heras

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Abstract

We report a de novo trisomy 6q22.2 → 6qter and monosomy 1pter → 1p36.3 identified in amniocytes by GTG banding and FISH. While ultrasonography demonstrated malformations that did not suggest a specific chromosomal syndrome, a male infant with features consistent with trisomy 6q was born. He was followed up until 23 months, when he died after cardiac surgery. The only two other prenatal cases of trisomy 6q were compared with our patient. A literature review showed that trisomy 6q has not been reported in association with the anomalies seen by ultrasound in this case.

Original languageEnglish (US)
Pages (from-to)115-117
Number of pages3
JournalClinical Genetics
Volume51
Issue number2
StatePublished - Apr 17 1997

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Keywords

  • Monosomy 1p
  • Partial trisomy 6q
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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