We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turricephaly; tall and broad forehead; hypertelorism; deep-set eyes; down slanting and short palpebral fissures; epicanthic folds; prominent nose with wide root and bulbous tip; microstomia; micro-retrognathia, large, short philtrum with prominent reliefs; low set, prominent ears; and congenital heart disease. The GTG banding karyotype showed a 46,XY,der(10)(10pter→10q26.2::4q26→4qter) chromosomal formula and his mother presented an apparently balanced reciprocal translocation: 46,XX,t(4;10)(q26;q26.2). The chromosomal anomalies of the child were confirmed by MLPA, and supplementary investigation discovered a quadruplication of the 4q35.2 region. The mother has a triplication of the same chromosomal fragment (4q35.2). Using array-CGH, we described the anomalies completely. Thus, the boy has a 71,057 kb triplication of the 4q26–q35.2 region, a 562 kb microdeletion in the 10q26.3 region, and a 795 kb quadruplication of the 4q35.2 region, while the mother presents a 795 kb triplication of the 4q35.2 region. Analyzing these data, we consider that the boy’s phenotype is influenced only by the 4q partial trisomy. We compare our case with similar cases, and we review the literature data.
A rare cause of infertility is the lack of fertilisation with the spontaneous activation of oocytes, leading to parthenogenesis. We present such a case. The patient was a G1P0 38-year-old woman of African ethnicity, who requested an in vitro fertilisation (IVF) with donor sperm. She received a stimulation protocol of 75 IU of FSH/LH from day 3 of the cycle, which she interrupted after 2 d, and restarted with the same dosage for another 3 d from day 7, plus one administration of GnRH antagonist in day 10 of the cycle. With a follicle reaching 19 mm on day 11, estradiol of 325 ng/ml, ovulation was induced with hMG 5000 UI, and oocyte pick-up performed at 30 h. One oocyte was retrieved, and good-quality sperms were added to the insemination procedure. No fecundation occurred at 20 h, with the extruded oocyte separated from the granulosa wall. At 40 h and 64 h the aspect was of three cells, one cell with one nucleus, the others with high granulation and no visible nuclei. This case shows an unusual self-activation oocyte in a poorly managed IVF cycle. The patient will be further evaluated, to decide if a better managed stimulation protocol would prevent recurrence.
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