Three cases with de novo 6q imbalance and variable prenatal phenotype

Francesca R. Grati, Faustina Lalatta, Licia Turolla, Ugo Cavallari, Barbara Gentilin, Franca Rossella, Irene Cetin, Patrizio Antonazzo, Maria Bellotti, Francesca Dulcetti, Demetrio Baldo, Romano Tenconi, Giuseppe Simoni, Monica Miozzo

Research output: Contribution to journalArticlepeer-review


We describe two families in which three fetuses had a de novo 6q imbalance and abnormal phenotypes. We determined the boundaries and the parental origin of the chromosomal alterations by segregation analysis using a panel of short tandem repeats (STRs) located on 6q. Cases 1 and 2 (family A) were two sibs with 6q imbalance involving different regions. Case 1 was a female fetus with arthrogryposis, who had a complex rearrangement resulting in two deleted regions (6q22 and 6q25.1-q25.2) and a duplication of 6q23-q25.1. This latter imbalance was reported previously and is associated with joint contractures and short neck, also present in this fetus. The sib (case 2) had intrauterine growth restriction (IUGR) and agenesis of the ductus venosus. This male died shortly after birth; postnatal karyotype and molecular investigations showed a 6q21 de novo deletion. Case 3 (family B) had a prenatally detected deletion of 6q14-q16. Autopsy of the fetus documented minor facial anomalies and contractures of the limbs. All rearrangements were de novo and of paternal origin. Our data and the consistent number of cases of de novo 6q alterations previously reported suggest that chromosome arm 6q could be prone to rearrangements resulting in heterogeneous phenotypes. In family A, chromosome 6q imbalances involving different chromosomal regions were present in two consecutive pregnancies. In such cases counseling should suggest the impossibility of excluding recurrence of a chromosomal imbalance, and should discuss the option of early prenatal diagnosis in subsequent pregnancies.

Original languageEnglish
Pages (from-to)254-258
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume136 A
Issue number3
Publication statusPublished - Jul 30 2005


  • Arthrogryposis
  • Chromosome 6 imbalances
  • Fetal akinesia deformation sequence (FADS)
  • Genetic counseling
  • Parental origin

ASJC Scopus subject areas

  • Genetics(clinical)


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