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Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male
Author(s) -
Pramparo Tiziano,
Gregato Giuliana,
De Gregori Manuela,
Friso Alessandra,
Clementi Maurizio,
Ardenghi Patrizia,
Rocchi Mariano,
Zuffardi Orsetta,
Tenconi Romano
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20498
Subject(s) - chromosomal translocation , biology , genetics , population , robertsonian translocation , gene , medicine , chromosome , karyotype , environmental health
We report a four generations family with multiple exostoses segregating with a reciprocal translocation t(8;19)(q24.11;q13.13) in 8 members of three generations. FISH investigations detected a breakage of the dosage‐sensitive EXT1 gene. Although three members of the family died perinatally from unknown causes and one carrier had four spontaneous abortions, the translocation was discovered only when the cytogenetic analysis was requested in an affected male because of oligozoospermia. In fact, it is well known that infertile males may be carriers of reciprocal or Robertsonian translocations with a higher frequency than the general population. This family stresses the importance of requesting the cytogenetic analysis in all cases in which a dominant disease segregates with repeated miscarriages and/or newborn deaths of unknown cause. © 2003 Wiley‐Liss, Inc.