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Case Reports
. 2013 Dec;16(2):91-6.
doi: 10.2478/bjmg-2013-0039.

Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family

A Pazarbasi  1 , O Demirhan  1 , D Alptekin  1 , Ft Ozgunen  2 , L Ozpak  1 , Mb Yilmaz  1 , E Nazlican  3 , N Tanriverdi  1 , U Luleyap  1 , D Gümürdülü  4
Affiliations
Case Reports

Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family

A Pazarbasi et al. Balkan J Med Genet. 2013 Dec.

Abstract

The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between chromosomes 3 and 21 in a family with one of two fetuses with Down Syndrome carrying the same translocation and the other also carrying the same translocation without the additional chromosome 21. Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Çukurova University Hospital at Adana, Turkey. We assessed a family in which the translocation between chromosomes 3 and 21 segregates: one of the three progenies carried the 47,XX,+21,t(3;21)(q21;q22) karyotype and presented with Down Syndrome; another of the three progenies carried the 46,XX,t(3;21) (q21;q22) karyotype and the third had the 46,XY karyotype. Their mother is phenotypically normal. Apparently this rearrangement occurred due to an unbalanced chromosome segregation of the mother [t(3;21)(q21;q22)mat]. This family will enable us to explain the behavior of segregation patterns and the mechanism for each type of translocation from carrier to carrier and their effects on reproduction and numerical aberrations. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling.

Keywords: Cytogenetics; Diagnosis of reciprocal translocation; Down Syndrome; Fetal amniotic fluid.

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Figures

Figure 1.
Figure 1.
Pedigree of the family.
Figure 2.
Figure 2.
Karyotype of the mother: 46,XX,t(3;21)(q21;q22).
Figure 3.
Figure 3.
Karyotype of the fetus of the first (terminated) pregnancy: 47,XX,+21,t(3;21)(q21;q22).
Figure 4.
Figure 4.
A: Abundant nuchal skin of terminated first fetus of the family. B: Facial appearance of the first terminated fetus of the family. C: Clinodactyly at left hand’s fifth finger and simian line.
Figure 5.
Figure 5.
Karyotype of the fetus of the third (terminated) pregnancy: 46,XX,t(3;21)(q21;q22).
See this image and copyright information in PMC

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