Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: A case report

Irene Bottillo, Marco Castori, Carmelilia De Bernardo, Romano Fabbri, Barbara Grammatico, Nicoletta Preziosi, Giovanna Sforzolini Scassellati, Evelina Silvestri, Antonella Spagnuolo, Luigi Laino, Paola Grammatico

Research output: Contribution to journalArticle

Abstract

Background: Thrombocytopenia-absent radius syndrome is a rare autosomal recessive disorder characterized by megakaryocytic thrombocytopenia and longitudinal limb deficiencies mostly affecting the radial ray. Most patients are compound heterozygotes for a 200 kb interstitial microdeletion in 1q21.1 and a hypomorphic allele in RBM8A, mapping in the deleted segment. At the moment, the complete molecular characterization of thrombocytopenia-absent radius syndrome is limited to a handful of patients mostly ascertained in the pediatric age. Case presentation. We report on a fetus with bilateral upper limb deficiency found at standard prenatal ultrasound examination. The fetus had bilateral radial agenesis and humeral hypo/aplasia with intact thumbs, micrognathia and urinary anomalies, indicating thrombocytopenia-absent radius syndrome. Molecular studies demonstrated compound heterozygosity for the 1q21.1 microdeletion and the RBM8A rs139428292 variant at the hemizygous state, inherited from the mother and father, respectively. Conclusion: The molecular information allowed prenatal diagnosis in the following pregnancy resulting in the birth of a healthy carrier female. A review was carried out with the attempt to the trace the fetal ultrasound presentation of thrombocytopenia-absent radius syndrome and discussing opportunities for second-tier molecular studies within a multidisciplinary setting.

Original languageEnglish
Article number376
JournalBMC Research Notes
Volume6
Issue number1
DOIs
Publication statusPublished - 2013

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Prenatal Diagnosis
Autopsy
Fetus
Ultrasonics
Alleles
Pediatrics
Micrognathism
Labor Presentation
Thumb
Heterozygote
Upper Extremity
Fathers
Thrombocytopenia
Extremities
Mothers
Parturition
Pregnancy
1.35-Mb Chromosome 1q21.1 Deletion Syndrome
Absent radii and thrombocytopenia

Keywords

  • 1q21.1 deletion
  • aCGH
  • Radius aplasia
  • RBM8A
  • rs139428292
  • TAR syndrome
  • Thrombocytopenia
  • Thrombocytopenia-absent radius syndrome

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele : A case report. / Bottillo, Irene; Castori, Marco; De Bernardo, Carmelilia; Fabbri, Romano; Grammatico, Barbara; Preziosi, Nicoletta; Scassellati, Giovanna Sforzolini; Silvestri, Evelina; Spagnuolo, Antonella; Laino, Luigi; Grammatico, Paola.

In: BMC Research Notes, Vol. 6, No. 1, 376, 2013.

Research output: Contribution to journalArticle

Bottillo, I, Castori, M, De Bernardo, C, Fabbri, R, Grammatico, B, Preziosi, N, Scassellati, GS, Silvestri, E, Spagnuolo, A, Laino, L & Grammatico, P 2013, 'Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: A case report', BMC Research Notes, vol. 6, no. 1, 376. https://doi.org/10.1186/1756-0500-6-376
Bottillo, Irene ; Castori, Marco ; De Bernardo, Carmelilia ; Fabbri, Romano ; Grammatico, Barbara ; Preziosi, Nicoletta ; Scassellati, Giovanna Sforzolini ; Silvestri, Evelina ; Spagnuolo, Antonella ; Laino, Luigi ; Grammatico, Paola. / Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele : A case report. In: BMC Research Notes. 2013 ; Vol. 6, No. 1.
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T2 - A case report

AU - Bottillo, Irene

AU - Castori, Marco

AU - De Bernardo, Carmelilia

AU - Fabbri, Romano

AU - Grammatico, Barbara

AU - Preziosi, Nicoletta

AU - Scassellati, Giovanna Sforzolini

AU - Silvestri, Evelina

AU - Spagnuolo, Antonella

AU - Laino, Luigi

AU - Grammatico, Paola

PY - 2013

Y1 - 2013

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