Physical mapping studies on the human X chromosome in the region Xq27-Xqter
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Cited by (46)
Is the resulting phenotype of an embryo with balanced X-autosome translocation, obtained by means of preimplantation genetic diagnosis, linked to the X inactivation pattern?
2016, Fertility and SterilityCitation Excerpt :These two patients exhibited a normal phenotype (without mental impairments or developmental delays), suggesting that no gene disruption had occurred. Deletion or duplication of this telomere tip (Xq27–28 → Xqter) did not induce a deleterious phenotype (48), in contrast to some disrupted genes with Xq breakpoint translocation associated with multiple congenital anomalies and/or developmental delay or fertility issues (7,52–54). Both female X-autosome carriers presented similar and normal clinical characteristics (BMI, menstrual cycle length, hormonal dosage, and AFC) and were included according to ovarian reserve parameters (AFC >4 for both ovaries and AMH >1 ng/mL) (55–58).
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