PMC4916784_01
Giemsa-Tyrpsin Banded Karyotype of Proband.
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F1
Chromosome analysis for a 21 year old progeny from 3rd degree consanguineous marriage adult female with menses not attained, revealed a karyotype of 46,XX,inv(6)(p21.3q25) (Fig. 1).
Giemsa-Tyrpsin Banded karyotype image of Proband's Father
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F2
Parental chromosome analysis revealed exactly similar inversion as it was found in the progeny; 46,XX,inv(6)(p21.3q25) and 46,XY,inv(6)(p21.3q25) (Fig. 2, 3) respectively for mother and father.
Giemsa-Tyrpsin Banded Karyotype of Proband's Mother
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F3
Parental chromosome analysis revealed exactly similar inversion as it was found in the progeny; 46,XX,inv(6)(p21.3q25) and 46,XY,inv(6)(p21.3q25) (Fig. 2, 3) respectively for mother and father.
Partial karyotype of Normal Chromosome and Abnormal chromosome 6 with Ideogram of normal Chromosome 6
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F4
We found a likely rare event or an unusual case where a 3rd degree consanguineous child inherited the inv from parents, however, the adult child was found to have low AMH (anti Mullerian hormone) and high level of FSH (follicular stimulating hormone) leading to polycystic ovarian syndrome/ premature ovarian failure and did not attain menses at age of 21 years. (Fig. 4 partial karyotype of normal and abnormal chromosome 6).
Giemsa Banded Karyotype image of wife
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F5
Chromosome analysis revealed a karyotype of 46, XX, t(1; 9)(p35; q13) and 46, XY, t(1; 9)(p35; q13) (Fig. 5 and 6) respectively for wife and husband. (Fig. 7 partial karyotypes of normal and abnormal chromosome 1 and 9).
Giemsa Banded Karyotype image of Husband
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F6
Chromosome analysis revealed a karyotype of 46, XX, t(1; 9)(p35; q13) and 46, XY, t(1; 9)(p35; q13) (Fig. 5 and 6) respectively for wife and husband. (Fig. 7 partial karyotypes of normal and abnormal chromosome 1 and 9).
Partial karyotype of normal and abnormal chromosome 1 and 9 and normal chromosome ideogram respectively
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F7
Chromosome analysis revealed a karyotype of 46, XX, t(1; 9)(p35; q13) and 46, XY, t(1; 9)(p35; q13) (Fig. 5 and 6) respectively for wife and husband. (Fig. 7 partial karyotypes of normal and abnormal chromosome 1 and 9).