Prenatal diagnosis of chromosome 4 mosaicism: Prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization

Mattia Gentile, Paolo Volpe, Filomena Cariola, Antonio Di Carlo, Vincenzo Marotta, Antonia Lucia Buonadonna, Filippo Maria Boscia

Research output: Contribution to journalArticle

Abstract

Trisomy 4 mosaicism is extremely rare: herein we report the cytogenetic and molecular characterization and prenatal US findings of a case diagnosed prenatally. The diagnosis of level III mosaicism was established in cultured amniotic fluid cells (22.5%). At 22 weeks gestation, micrognathia and hypotelorism were suspected at 2-D sonography, and confirmed at 3-D examination. In addition, 2-D US showed cerebellar hypoplasia associated with borderline ventriculomegaly (confirmed at magnetic resonance imaging, MRI), spine deformity (hemivertebra), and a complete atrioventricular septal defect (AVSD). The pregnancy was terminated. Trisomy 4 mosaicism was confirmed in placental and fetal skin cultured cells. The cord blood karyotype was normal. Molecular analysis excluded uniparental disomy of chromosome 4, and indicated that the trisomy 4 was of maternal meiotic origin. In presence of chromosome 4 mosaicism, accurate fetal sonography and echocardiography are mandatory. Low level mosaicism and normal echographic examinations seem to be associated with good prognosis. In postnatal life, chromosome 4 mosaicism should be suspected, and cytogenetic analysis proposed of further tissues (i.e., skin), in presence of craniofacial dysmorphism, cardiac defects, and abnormal hands/feet, even if mental development is appropriate or only slightly impaired.

Original languageEnglish
Pages (from-to)66-70
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume136 A
Issue number1
DOIs
Publication statusPublished - Jul 1 2005

Fingerprint

Chromosomes, Human, Pair 4
Mosaicism
Prenatal Diagnosis
Cytogenetics
Magnetic Resonance Imaging
Trisomy
Micrognathism
Prenatal Ultrasonography
Uniparental Disomy
Pregnancy
Skin
Cytogenetic Analysis
Amniotic Fluid
Fetal Blood
Karyotype
Echocardiography
Foot
Cultured Cells
Ultrasonography
Spine

Keywords

  • Fetal/neonatal outcome
  • Prenatal diagnosis
  • Three-dimensional ultrasound
  • Tissue-specific mosaicism
  • Trisomy 4

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Prenatal diagnosis of chromosome 4 mosaicism : Prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization. / Gentile, Mattia; Volpe, Paolo; Cariola, Filomena; Di Carlo, Antonio; Marotta, Vincenzo; Buonadonna, Antonia Lucia; Boscia, Filippo Maria.

In: American Journal of Medical Genetics, Vol. 136 A, No. 1, 01.07.2005, p. 66-70.

Research output: Contribution to journalArticle

Gentile, Mattia ; Volpe, Paolo ; Cariola, Filomena ; Di Carlo, Antonio ; Marotta, Vincenzo ; Buonadonna, Antonia Lucia ; Boscia, Filippo Maria. / Prenatal diagnosis of chromosome 4 mosaicism : Prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization. In: American Journal of Medical Genetics. 2005 ; Vol. 136 A, No. 1. pp. 66-70.
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