Two complementary recombinant chromosomes 5 in a healthy woman

• Published in: Cytogenetic and genome research Vol. 114; no. 2; pp. 178 - 182
• Main Authors: Bartsch, O., Ergun, M.A., Balci, S., Kan, D., Eggermann, T., Kotzot, D.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.01.2006
• Subjects: Abortion, Habitual; Adult; Base Sequence; Chromosome Inversion - genetics; Chromosomes, Human, Pair 5 - genetics; DNA, Recombinant - genetics; Female; Health; Humans; Karyotyping; Male; Original Article; Polymorphism, Genetic - genetics
• ISSN: 1424-8581; 1424-859X
• DOI: 10.1159/000093336

We report a healthy woman with two abortions who is a carrier for a rare heterozygous double recombinant of an inv(5) chromosome, karyotype 46,XX,rec(5)dup(5p) inv(5)(p13q22),rec(5)dup(5q)inv(5)(p13q22). Her father had a 46,XY,inv(5)(p13q22) karyotype; his consanguineous wife had died. Molecular investigation of 11 highly polymorphic markers spanning chromosome 5 revealed biparental inheritance for two markers (D5S406, D5S681) on 5p15.3 and 5q13.1, and an allele constellation not compatible with paternal heterodisomy for marker D5S623 on 5q11.2. Eight markers were not informative. Three mechanisms of formation are proposed: First, fertilization of a normal oocyte by a sperm carrying the two recombinant chromosomes 5, followed by postzygotic recombination between the normal maternal homologue and the rec(5)dup(5p), and by loss of the mitotically recombined maternal homologue, leading to segmental paternal heterodisomy 5q13→qter (trisomic rescue). Second, postzygotic recombination in a 46,XX,inv(5)(p13q22) zygote resulting in the 46,XX,rec(5)dup(5p)inv(5)(p13q22),rec(5) dup(5q)inv(5)(p13q22) karyotype, followed by absence of the original cell line in lymphocytes. Third and most likely, both parents were inv(5) carriers and complementary recombinations in maternal and paternal meiosis resulted in a zygote with two recombinant chromosomes 5. Our patient refused any further studies but later reported the birth of a phenotypically normal child. This is the first report known to us of complementation by two non-homologous recombinant chromosomes in a phenotypically normal woman, and the first example of a child born to a carrier of complementary recombinant chromosomes.