Molecular heterogeneity of XY sex reversal in horses
نویسندگان
چکیده
منابع مشابه
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose...
متن کاملXY sex reversal and gonadal dysgenesis due to 9p24 monosomy.
We describe a case of XY sex reversal, gonadal dysgenesis, and gonadoblastoma in a patient with a deletion of 9p24 due to a familial translocation. The rearranged chromosome 9 was inherited from the father; the patient's karyotype was 46,XY,der(9)t(8;9) (p21;p24)pat. A review shows that 6 additional patients with 46,XY sex reversal associated with monosomy of the distal short arm of chromosome ...
متن کاملCorrigendum: Masculinised Behaviour of XY Females in a Mammal with Naturally Occurring Sex Reversal
“We are grateful to J. Britton-Davidian, T. J. Robinson, and J. Watson for their contributions in collecting the founder animals, J. Perez and M. Perriat-Sanguinet for their help in maintaining the breeding colony, P.-A. Crochet for advice on statistical analyses and C.M.-S. Dufour and Y. Latour for helpful discussions. This work was supported by the French National Research Agency (ANR grant “...
متن کاملMasculinised Behaviour of XY Females in a Mammal with Naturally Occuring Sex Reversal
Most sex differences in phenotype are controlled by gonadal hormones, but recent work on laboratory strain mice that present discordant chromosomal and gonadal sex showed that sex chromosome complement can have a direct influence on the establishment of sex-specific behaviours, independently from gonads. In this study, we analyse the behaviour of a rodent with naturally occurring sex reversal: ...
متن کاملHermaphrodism and sex reversal associated with the dominant hemimelia mutation in XY mice
After two generations of backcrossing six different Y-consomic strains onto a C57BL/6J inbred mouse strain with a dominant hemimelia (Dh) mutation, a small percentage of Dh/+ males containing a Y chromosome from the AKR/J or RF/J strain showed hermaphrodism; they lacked the right testis and had an ovary and a uterus instead. Approximately 15% of Dh/+ females considered to be phenotypically norm...
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ژورنال
عنوان ژورنال: Animal Genetics
سال: 2010
ISSN: 0268-9146
DOI: 10.1111/j.1365-2052.2010.02101.x