Prenatal detection of deletion–duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion

Autor: A. Radha Ramadevi, K. Prabhakara, R. Sudheer Kumar, Damien L. Bruno, Priya Padman, Howard R. Slater, Suma Prasad
Rok vydání: 2008
Předmět:
Zdroj: Prenatal Diagnosis. 28:466-468
ISSN: 1097-0223
0197-3851
DOI: 10.1002/pd.2005
Popis: The deletion–duplication syndrome of chromosome 3, arising from a familial pericentric inversion was first reported by Boue et al. (1974). Since then there have been an additional five postnatal reports in the literature (Allderdice et al., 1975; Fineman et al., 1978; Kawashima and Maruyama, 1979; Migliori et al., 1983; Preus et al., 1986). Steinbach et al. (1981) reviewed the clinical phenotype of 37 patients with the combination of partial duplication and deletion as a result of meiotic recombination. In this report, we describe the first prenatally detected recombinant chromosome 3, with partial 3p deletion and partial 3q duplication, arising from a meiotic recombination in an inversion carrier father. The application of a subtelomere multiplex ligationprobe dependent amplification (MLPA) assay and SNP 250K Nsp GeneChip array was of great value in the precise identification and characterisation of the abnormal chromosome. A 29-year-old woman with first gravida of nonconsanguineous marriage was referred for prenatal chromosomal diagnosis at 23 weeks of gestation following abnormal ultrasound findings. Her family history was unremarkable. The husband was 32-years old. His mother had 11 pregnancies, of which only 3 resulted in the birth of normal children. Seven pregnancies ended in stillbirths and one child died neonatally. No prenatal or postnatal investigations were done in these pregnancies or in stillborn babies. The first of the normal children was the father of the proband reported here and he had two younger sisters. Both sisters had normal children. His parents were deceased and other members of the family were not available for karyotyping. The major ultrasound findings in this case were ventriculomegaly, lemon-shaped head and lumbosacral meningocele. The couple opted for termination of pregnancy following an abnormal ultrasound finding. On termination of pregnancy, the obstetrician had noted
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