Gene/Protein Disease Symptom Drug Enzyme Compound
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A structural X chromosome abnormality was found in the karyotype of a tall patient with gonadal dysgenesis and with no extragenital anomalies. Based on her mother's karyotype, which showed a pericentric inversion of the X chromosome: 46,X,inv(X)(p22q24), as well as from G and R banding, we concluded that the abnormal X chromosome of our patient was a recombinant chromosome that had originated as a result of one crossing over in the inversion loop during gametogenesis in her mother. The recombinant X chromosome had a partial delection of Xq and a partial duplication of Xp: 46,X,rec(S),dup p,inv(X)(p22q24). After BUDR incorporation, the abnormal X chromosome of the patient and that of her mother showed a late replication. The karyotype-phenotype correlation and the nonrandom inactivation of the inverted X chromosome in the mother are discussed.
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PMID:Recombinant chromosome as a result of pericentric inversion of X chromosome. 73 16

From the standpoint that cytogenetic screening in mares is seldom necessary as an aid to diagnosis of the gonadal dysgenesis syndrome, a series of double-blind trials were conducted to test the proposal that present practice failed to explore the potential for cytogenetics in clinical practice. It was demonstrated that diagnoses of infertility might be made where mares were found to be of normal phenotype by clinical examination. Such mares were found to be gonosmic mosaics. One stallion had a polymorphism of the X chromosome and had poor conception rates. It was demonstrated that the true value of chromosome testing in clinical stud practice has previously been misinterpreted and underestimated.
Vet Rec 1985 May 18
PMID:Sex chromosome mosaicism and infertility in mares. 401 42

The Turner syndrome (TS) is a complex disorder associated with almost invariant short stature and gonadal dysgenesis, as well as a variety of other major organ malformations. Recently, a homeobox-containing gene entitled short-stature homeobox-containing gene (SHOX), was isolated from a minimal short stature gene interval from the pseudoautosomal region of Xp (and Yp). Together with the demonstrable escape of SHOX from X-inactivation, this suggested SHOX to be a strong candidate gene for the short stature component of TS, and as SHOX haploinsufficiency appears to be the molecular basis of a mesomelic short statured skeletal dysplasia (Leri-Weill syndrome), this suggested that SHOX protein expression levels may confer a dosage effect on human stature. However, in this communication we report a normal statured female with gonadal dysgenesis, due to the inheritance of a recombinant duplication-deletion X-chromosome. The karyotype of the proband was 46,X,rec(X)dup(Xp)inv(X)(p11.22q21.2)mat and fluorescent in situ hybridization of her metaphases with a SHOX cosmid confirmed the proband to be trisomic for SHOX. This communication suggests the relationship between levels of SHOX expression and human stature to be more complex than envisaged previously. The presence of normal stature in our patient rather than tall stature is likely to represent the natural variation seen in patients with transcription factor disorders.
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PMID:Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome. 1203 92