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We report a unique karyotype of 44,XY,der(13;14)(q10;q10)×2 detected in a phenotypically normal man married to a consanguineous healthy woman. The couple had a history of 3 second-trimester intrauterine fetal deaths (IUFDs) that involved multiple congenital anomalies. Together with a few previous observations in living patients who were homozygous for 13;14 and 14;21 translocations, this case supports the idea that subjects with 44 chromosomes can be healthy and lacking in dysmorphic features. Reproductive options for carriers of these translocations are discussed herein.With an incidence of approximately 1:1000, Robertsonian translocations are considered the most common structural chromosomal anomalies in humans.1 These translocations may arise de novo or be inherited. Among the Robertsonian translocations, 13;14 and 14;21 are the most common.2 Although the vast majority of carriers of Robertsonian translocations are phenotypically normal, the abnormality contributes to genetic imbalances in the offspring, causing early spontaneous abortions, fetal losses, mental retardation, multiple congenital anomalies, uniparental disomy, and infertility.3,4 An increased frequency of Robertsonian translocations has been reported among men with severe oligozoospermia and azoospermia.5 Balanced translocations interfere with normal chromosome pairing and segregation at meiosis phase I, thus creating the potential for the formation of unbalanced gametes and subsequent unbalanced phenotypically abnormal offspring.6Despite the relative high incidence of Robertsonian translocations, reports of homozygosity for these chromosomal abnormalities are extremely rare. In a review of the literature, very few cases were found to have 2 translocations involving the same acrocentric chromosomes.7–13 Herein, we report a homozygous (13;14) Robertsonian translocation detected in the male partner of a couple with repeated fetal losses.### Case PresentationThe probands are a phenotypically normal consanguineous couple who attended our clinic seeking genetic counseling because of their history of 3 consecutive intrauterine fetal deaths (IUFDs) involving multiple congenital anomalies. The husband was 26 years old …

Homozygosity for a Robertsonian Translocation (13q;14q) in an Otherwise Healthy 44, XY Man With a History of Repeated Fetal Losses