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Updated: Oct 26, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation
F Daïkha-Dahmane1, Y Huten, J Morvan
1Service de Biologie du Développement, Hôpital Robert-Debré, Paris, France.
Abstract:
We report on a fetus with cranio-facial anomalies, a narrow thorax, imperforate anus with cloacal cyst, and a genitourinary malformation with absent uterus, vagina, and external genitalia. Major thoracic defects were seen on roentgenographic examination, including absent vertebrae and ribs, a supernumerary vertebra, a hemivertebra, and rib fusion. These findings are compatible with Casamassima-Morton-Nance syndrome. The patient was the carrier of a translocation t(6;9)(p12;q12), inherited from the mother. Although the occurrence of this rearrangement may be coincidental, it may also indicate a possible locus for this autosomal recessive thoracic dysplasia.
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