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Both macroscopic and histological analysis revealed a normal architecture of gonopores and gonads in both control and exposed animals.
Chromosomal analysis revealed a normal 46,XX female karyotype.
Chromosome analysis revealed a normal male karyotype (46,XY).
A GTG-banding chromosome analysis revealed a normal karyotype (46,XY[20]), and molecular biology studies were negative for BCR-ABL1 transcripts and JAK2 V617F mutation.
Hormonal analysis revealed a normal serum prolactin level of 215 Mu/L, a low FSH of 0.5 Mu/L, and a low LH of 1.1 Mu/L.
In the first pregnancy one baby was born, while one fetus died at Week 26; the chromosomal analysis revealed a normal karyotype.
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Furthermore, the DEXA analysis revealed a higher than normal percentage of fat mass in these animals, which reproduced the increased fatness seen in the clinics, even if a favourable redistribution of fat from visceral to subcutaneous depots was also reported [ 47].
Screening for mutations in the coding region was normal, but MLPA analysis revealed a duplication of all five exons of EFNB1 (Fig. 2A).
DNA sequencing of EFNB1 was normal, but further analysis revealed a duplication of 937 kb including EFNB1 and two flanking genes: PJA1 and STARD8.
The tidal breathing analysis revealed a decreased tPTEF% tE (18.2 ± 0.26%, normal: more than 40%) or VPEF%VE (21.7 ± 0.32%, normal: more than 40%), suggesting obstructive airway dysfunction.
Chromosomal analysis of the woman revealed a normal karyotype (46,XX).
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