A translocation t (Bq+: Cq-) in a West Indian family and a report of a second family showing a possible long arm group B translocation.

A Family with a Balanced C/C Translocation Carrier and an Unbalanced 47, XY, (Cq−) + Son

“…Several cases of partial trisomy C, none with 47 chromosomes, have been described (Edwards et al, 1962;Rohde and Catz, 1964;De Grouchy and Canet, 1965;Lindsten et al, 1965;Gray et,al, 1966aGray et,al, , 1966bLejeune et al, 1966;Punnett et al, 1966;Stahl et al, 1966;Biihler et al, 1967;De Grouchy et al, 1967a, 1967bJensen and Melchior, 1967;Lord et al, 1967;Pitt et al, 1967;Lejeune et al, 1968;McDermott et al, 1968;Mikkelsen et al, 1968;Butler et al, 1969;Deminatti et al, 1969;Lozzio and Kattine, 1969;Thorburn et al, 1969), all of them with a different clinical picture. This phenotypical variability might be explained taking into account that in all described cases, including ours, different regions of different chromosomes are involved in the rearrangement.…”

Developmental abnormalities in a patient with karyotype 46,XX,bq+.

“…Bq + chromosomes were present in a cell line in at least three cases involving mosaicism (Hsu et al, 1967;Thorburn et al, 1969;Turner, Bass, and Kaplan, 1966). There are also five reports of the spontaneous appearance of Bq + chromosomes (Atkins and Feingold, 1967;Bray and Ann Josephine, 1964;Gagnon et al, 1963;Gendel and Wasserman, 1966;Trujillo et al, 1966) and two additional cases in which full family studies were not possible (Iivanainen and Gripenberg, 1967;Tischler, Corey, and Co-Te, 1968).…”

“…Several of these have involved balanced translocations in apparently normal persons (Makino, Aya, and Sasaki, 1965;Grouchy et al, 1967;Thorburn, Smith-Read, and Peck, 1969;Court Brown et al, 1964). Some have fertility problems (Edwards et al, 1962;Mann et al, 1965) and repeated abortion (Makino et al, 1965;Patau, 1963;Thorburn et al, 1969) attributed to their chromosomal constitution. Edwards et al (1962) reported two sibs with congenital abnormalities with Bq+ chromosomes inherited from their father who was a t(Bq + ;Cp -) heterozygote.…”

“…Patau (1963) presented a severely retarded child with a Bq + chromosome whose mother and sister were t(Bq + ;Cq-) heterozygotes. Thorburn et al (1969) described an abnormal infant with a Bq + chromosome whose mother, two sisters, and maternal grandfather were t(Bq+ ;Cq-) heterozygotes. Grouchy et al (1967) reported a case of a malformed boy who had a Bq+ chromosome resulting from maternal translocation heterozygosis; his sister carried a balanced translocation t(Cp-;Bq +).…”