Inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with Down syndrome carrying the same translocation

• Published in: Genetic counseling Vol. 19; no. 3; p. 301
• Main Authors: Pazarbaşi, A, Demirhan, O, Turgut, M, Güzel, I, Taştemir, D
• Format: Journal Article
• Language: English
• Published: Switzerland Éditions Médecine et Hygiène 01.01.2008
• Subjects: Abortion, Habitual - genetics; Adult; Chromosome Banding; Chromosomes, Human, Pair 12 - genetics; Chromosomes, Human, Pair 16 - genetics; Chromosomes, Human, X - genetics; Chromosomes, Human, Y; Down Syndrome - diagnosis; Down Syndrome - genetics; Exportin 1 Protein; Female; Genetic Carrier Screening; Genetic Counseling; Humans; Infant, Newborn; Karyopherins; Karyotyping; Male; Pedigree; Pregnancy; Receptors, Cytoplasmic and Nuclear; Translocation, Genetic - genetics
• ISSN: 1015-8146

Reciprocal translocation carriers have reduced fertility, increased risk of spontaneous abortion or unbalanced karyotype in their offspring. Here, we report the inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with Down syndrome carrying the same translocation. Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Cukurova university hospital in Turkey. We assessed a family in which the translocation between chromosomes 12 and 16 segregates; one of the eight progenies with the karyotype 47,XY,+21,t(12;16)(q24;q24) was heterozygote for the translocation and presented with Down syndrome. His mother is phenotypically normal, one brother and one sister were also carrying the same translocation. Apparently, this rearrangement occurred due to the unbalanced chromosome segregation of the mother [t(12;16)(q24;q24)mat]. This case will enable us to explain the behavior of segregation patterns and the mechanism for each type oftranslocation from carrier to carrier and their effects on reproduction and numerical aberrations. The t(12;16) is also associated with fetal wastage and may play a role in the etiology of the family's miscarriages. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling.