Partial trisomy 14q due to familial t(14q-, 11q+) translocation

Summary A malformed male newborn with partial trisomy for the distal part of the long arm chromosome 14 (14q₂₃14qter) is described. This anomaly arose as a segregation product of a balanced t(14q-, 11q+), translocation in the father.     

A familial translocation t(6q+;8q-) identified by fluorescence microscopy

Summary A balanced translocation t(6q+;8q-) was identified by fluorescence studies in a family with multiple spontaneous abortions. It is suggested that a zygote, monosomic for the long arm of chromosome No. 8 is not viable.

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Zusammenfassung Eine balancierte Translokation t(6q+;8q-) wurde durch Fluorescenzuntersuchungen in einer Familie mit mehreren spontanen Aborten nachgewiesen. Es wird betont, daß eine Zygote mit Monosomie des langen Armes vom Chromosom 8 nicht lebensfähig ist.

     

Tertiary trisomy 14q-, due to paternal balanced translocation 46,XY,t(1;14)(q44;q22)

Summary Retardation of growth and mental development, craniofacial dysmorphy, limb anomalies, cryptorchidism and repeated infections are observed in a child with 47,XY,+der(14),t(1;14)(q44;q22)pat.     

Chronic myelogenous leukemia with translocations (3q-;9q+) and (17q-;22q+). Possible crucial cytogenetic events in the genesis of CML

Summary Two reciprocal translocations involving chromosomes 3, 9, 17, and 22 were found in a patient with seemingly Ph¹-negative chronic myelogenous leukemia (CML). The two translocations were t(3;9)(q21;q34) and t(17;22)(q21;q11); the breakage in chromosomes 9 and 22 apparently occurred at the same point as in the usual Ph¹ translocation, t(9;22)(q34;q11).From the present evidence and a review of the literature it appears that the breakage on both chromosomes 9 and 22 at the special regions and the separation of the fragments are present in practically all standard and variant Ph¹ translocations, even those in which the terminal region of the long arm of chromosome 9 (9q) does not seem to be involved in the rearrangement; however, a translocation between chromosomes 9 and 22 is not an obligatory result of the rearrangement, as seen in the present case. Thus, we postulate that the breakage on both chromosomes 9 and 22 at the special regions and separation of the fragments are the crucial cytogenetic events in the genesis of CML and stress the importance of paying careful attention to the terminal region of 9q, particularly when chromosome 9 does not seem to be involved in the rearrangement.This work was supported in part by grants (Nos. 401001 and 401071) from the Ministry of Education, Science and Culture of Japan     

Translocation t(7p+; 13q-) associated with recurrent abortion

Summary A balanced translocation was found in a normal female with a history of four abortions. On the basis of the Giemsa-banding pattern the abnormality was interpreted as to be a translocation of a part of the long arm of chromosome 13 to the short arm of chromosome 7:t(7;13)(7qter7p22::13q1413qter;13q1413pter::7p227pter). Problems in genetic counseling are discussed with respect to this case.Supported by the Forschungsprojekt Medizinische und soziale Probleme der menschlichen Reproduktion des Ministeriums für Gesundheitswesen der DDR.     

18q- Syndrome resulting from a tdic(14p;18q)

Summary A case of 18q- syndrome due to a de novo tdic(14p;18q) is presented. The interest of this observation lies in the rarity of stable dicentric chromosomes arising from reciprocal translocations between autosomes.     

t(21q21q)/r[t(21q21q)] mosaic in two unrelated patients with mild stigmata of Down's syndrome

Two cases of t(21q21q)/r[t(21q21q)] mosaic in unrelated infants, 17 and 14 months old respectively are reported. The proportion of cells with the ring chromosome was 45% in the former, 80% in the latter. Both cases had mild manifestations of the Down's syndrome. The origin of this unusual mosaicism as well as the significance of the difference in the proportions of the ring chromosome in the two have been discussed.     

Tertiary trisomy, 47,XX,+14q-, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24)

Summary A 3-year-old child with tertiary trisomy 14 (+14q-), daughter of a mother with a balanced reciprocal translocation [46,XX,t(14;16) (q11;q24)] is presented. Craniostenosis and developmental retardation were the primary presenting features in this patient.Operated by the University of Chicago for the U.S. Energy Research and Development Administration.This study was supported by the South Carolina Department of Mental Health.