PMC4622419_01
Pedigree of the family with the proband (II.3) indicated by a black arrow.
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A 39-year-old pregnant woman (Fig. 1, individual I.1) was carefully monitored due to advanced maternal age, in the obstetric consultation performed at the Hospital of Divino Espirito Santo of Ponta Delgada, the sole existing hospital in the Azorean Island of Sao Miguel, Portugal. This was the third pregnancy of a nonconsanguineous couple who had two previous healthy children: a 15-year-old female (Fig. 1, individual II.1) and a 12-year-old male (Fig. 1, individual II.2). The amniocentesis was performed at 16 weeks of gestation (Fig. 1, proband II.3). A phenotypically normal girl (Fig. 1, proband II.3) was born with a birth weight of 2,600 g and an
Fetus (II.3) standard karyotype by G-banding (A) and FISH (B) analyses showed an sSMC(15) paternally inherited. Red and white arrows indicate the sSMC(15) in (A) and (B), respectively.
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Conventional cytogenetics revealed an abnormal karyotype - 47,XX,+mar - with one sSMC detected in all metaphases (Fig. 2A), thereby making the possibility of mosaicism unlikely. Molecular investigation by FISH (Fig. 2B) and PCR were also carried out in the fetus to detect whether the critical region of Prader-Willi/ Angelman syndromes were present.
Father's (I.2) standard karyotype by G-banding (A) and NOR-banding (B). These analyses revealed an sSMC(15) with two centromeres - idic(15)(ql2) - indicated by the red arrow.
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The mother's karyotype was normal (46,XX), but an identical sSMC was found in the father's karyotype [47,XY,+idic(15)(q12)] (Fig. 3A and B).