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Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13

✍ Scribed by Tar, A.; Ion, A.; Sólyom, J.; Györvári, B.; Stephenson, C.; Barbaux, S.; Nunes, M.; Fellous, M.; McElreavey, K.

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
134 KB
Volume
68
Category
Article
ISSN
0148-7299

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✦ Synopsis

A de novo apparently balanced translocation involving chromosomes 8 and 20 was found in a 14-year-old boy with minor anomalies, mild skeletal abnormalities and ambiguous external genitalia including perineoscrotal hypospadias, rudimentary fused labioscrotal folds, bilateral cryptorchidism, and small penis. The karyotype was 46,XY, t(8;20)(q22.3-23;p13). No signs of other conditions known to be associated with structural anomalies of either chromosome 8 or 20 were present and incomplete masculinisation of the external genitalia appears to be the main component of the phenotype. Clinical and biological studies showed apparently normal testicular function in utero and after birth. Examinations excluded 5␣reductase deficiency or a block in any enzymatic steps of testosterone, glucocorticoid and mineralocorticoid biosynthesis. Coding sequences of the sex-determining gene (SRY) and androgen receptor gene (AR) were found to be identical to those of a normal male excluding their role in the cause of the present condition. Since several other reports describe the association of hypospadias and hypertelorism with deletions or translocations involving 8q, we suggest that a locus necessary for male sex differentiation is located at distal 8q. Am.

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