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Articles » Aneuploidy

2006-01-09-16 Chromosome 15 ring, 46XX,r(15) © Cuillier

Chromosome 15 ring, 46XX,r(15)

Cuillier F, MD*, Denies, MD#, Riviere JP, MD*

* Hospital Félix Guyo, Saint Denis, Reunion Island, France
Radiology Center, Saint Andre, Ile de la Réunion, France

This is a 35-year-old, G2P1, without relevant past obstetrical history. The first exam performed at 12 weeks showed a cystic hygroma. The patient was referred to our unit at 16 weeks. The scan revealed:

  • Bilateral hydrocephaly
  • Cystic hygroma without anasarca
  • Inferior limbs which seemed spindly
  • Single umbilical artery
  • An abnormal profile: bird-headed profile
  • Superior limbs were normal
  • Normal spine

An amniocentesis was performed. The result was 46XX,r(15). The parents were informed and decided to interrupt the pregnancy. The interruption was done at 18 weeks. The postnatal examination confirmed all the anomalies. There were signs of viral infection. The skeletal radiology was normal at this term. The parents were informed about the recurrence risk.

This dysmorphology is characterized by:

  • Intrauterine growth retardation
  • Microcephaly
  • Abnormal facies with a “bird-like” profile
  • Radial anomalies
  • Mental deficiency is always present in the survivors

Endovaginal scan at 16 weeks. Left image: Transversal view of the brain. Note the bilateral hydrocephaly. Right image: Coronal view of the neck with the cystic hygroma. 

Endovaginal scan at 16 weeks. View of the inferior limbs.

Transversal view of the brain at 18  weeks. Bilateral Hydrocephaly.

Note the hydrocephaly and the flat face.

Coronal view of the face. Note the normal eyes

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