Smith-Magenis Syndrome Diagnosed at Birth

C Lozzio, T Ryan, E Bamberger, E Holland, W Carter
2000 Genetics in Medicine  
A balanced reciprocal translocation t(Y;l)(q12;q21) was found in an azoospermic male. Using the testicular sperm extraction (TESEI and 1ntracytoplasmic sperm inJection (ICSI), the patient had a boy who was found to have the same translocat1on. They were revealed to have a balanced reciprocal translocatlon by G-, C-, R-and high resolution banding_ Fluorescence in situ hybndiatlon (FISH) with the probe chromosome Yq heterochromat1n and C-banding were confirmed that the breakpoint is 1n Yq12
more » ... nt is 1n Yq12 heterochromat1c region. It was known that deletion of the AZF region of the Y chromosome 1s most frequent molecularly defined cause of spermatogen,c failure. Especially the DAZ (deleted 1n azoosperm1a) gene is expressed exclusively 1n the human male germ line, and 1s frequently microdeleted in azoosperm1c men. To detect the small deletion 1n AZF gene, we studied on seven loci (sY84, 129, 134, 156, 254, 255, 2691 including 3 DAZ regions. Also three loc, (SRY, DYZ3. DYZ1 I on the short arm, centromer e and long arm respectively were amplified. M1crodelellon of 10 loci was not detected 1n 1nfert1le male and his son. The results indicate that the 1nfert1l1ty of this patient could be due to alteration of the sequence order ol Y chromosme or to a disturbance of X chromosome 1nact1vat1on as a result of the prox1mrty to the autosomal portion.
doi:10.1097/00125817-200001000-00152 fatcat:rttsicx6hvg7rcqqs57kuog25y