13/14 translocation in a man with reproductive failure

Summary An inherited (maternal origin) 13/14 translocation with the nucleolus organizer regions eliminated and one centromere was found in an oligospermic man whose wife had had two spontaneous abortions. Meiotic studies revealed all stages of spermatogenesis with a trivalent configuration in diakinesis. Possible reasons for his subfertility and his mother's normal fertility are discussed.     

Trisomy 13 with a 13q14q translocation.

A sporadic case of Patau syndrome with 46,XY,14-,t(13q14q)+ karyotype is reported in a 2-month-old child. Dermatoglyphic and cytogenetic findings of the propositus and cytogenetic study of his parents are presented.     

A t(13q14q) family with the translocation and a Philadelphia chromosome in one member

Summary A family with a t(13q14q) is presented. The leukemic proband had a Philadelphia (Ph¹) chromosome and the translocated chromosome. The translocation seems to have been present in 4 generations.     

Meiotic studies and synaptonemal complex analysis in two infertile males with a 13/14 balanced translocation

Summary Meiotic and synaptonemal complex studies by light and electron microscopy have been carried out in two infertile males with a balanced 13/14 translocation. As expected, all metaphase I figures in conventional meiotic preparations contained a chain trivalent. Synaptonemal complex studies showed typical trivalent images with incomplete pairing of the acrocentric elements in the cis configuration. A review of the literature shows that the fertility of these patients is quite variable. All of them show a slightly reduced number of chiasmata (mean 46.6). Pairing in cis, as detected by electron microscopic studies, does not seem to have a prognostic value.     

Proximal trisomy 13. A family with balanced reciprocal translocation t(8;13) in seven members and Robertsonian translocation t(13;14) in three members

Summary The cytogenetic analysis of a 12-year-old retarded boy revealed a partial proximal trisomy 13, resulting from a maternal translocation t(8;13). A familial study shows this translocation in seven persons and also a Robertsonian translocation t(13q;14q) in three sons of a t(8;13) father. A review of partial proximal trisomies 13 shows a variability in the phenotypic expression.     

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

A 9-year-old mentally retarded girl with multiple congenital anomalies was found to carry a balanced 13/14 Robertsonian translocation [45,XX,t(13q14q)] which was also present in her father. Her mother carried a balanced reciprocal translocation between chromosomes 1 and 14 [46,XX,t(1;14) (q32;q32)]. Both of her parents were phenotypically normal. Molecular studies were carried out to determine the parental origin of chromosomes 1, 13, and 14 in the patient. Using probes for D14S13 and D14S22, we could show that the patient inherited both chromosomes 14 from her father and none from her mother. Similar studies using probes for chromosomes 1 (D1S76) and 13 (D13S37) loci showed the presence of both maternal and paternal alleles in the patient. Our findings indicate that paternal uniparental heterodisomy for chromosome 14 most likely accounts for the phenotypic abnormalities observed in our patient. It is suggested that uniparental disomy may be the basis for abnormal development in at least some phenotypically abnormal familial balanced-translocation carriers.     

X/Y translocation in a family with Leri-Weill dyschondrosteosis

An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes for SHOX and SRY displayed no signal on the der(X), while one signal for SHOX was detected on the normal X chromosome in the mother, and one signal each for SHOX and SRY was detected on the normal Y chromosome in the proband.     

Inherited (13; 14) translocation and reproduction

Summary An inherited translocation chromosome t(13;14) was found in three unrelated families which showed strikingly different types of reproductive disturbances possible associated with the translocation chromosome. Two translocation carrier sisters on the first family had four pregnancies of which one yielded a severely malformed child with a translocation D trisomy and three pregnancies terminated in spontaneous abortions. In the second family the translocation carrier mother had had seven spontaneous abortions, one induced abortion and no normal pregnancies. The foetus of the induced abortion had, unexpectedly, a balanced translocation karyotype identical to the mother's. No obvious ill effects of the translocation chromosome were encountered in the third family, in which the translocation was first detected in a girl with typical Down's syndrome. She had 21-trisomy and the t(13;14) translocation. Special attention was paid to the morphology of the translocation chromosome and to the structure of the centromeres using the G-, C- and Q-banding techniques. The translocation chromosome was, however, identical in all three families and it was considered to be a result of an unequal reciprocal translocation of the affected D chromosomes; t(13;14) (q12;p12). The need of prenatal chromosome analyses in pregnancies of D/D-translocation carriers is briefly discussed.

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Zusammenfassung In drei nicht miteinander verwandten Familien wurde ein vererbtes Translokationschromosom gefunden, wobei die Familien auffallend verschiedene Typen von Fortpflanzungsstörungen aufwiesen, die möglicherweise mit dem Translokationschromosom zusammenhängen. Zwei Schwestern der ersten Familie waren Translokationsträger und hatten vier Schwangerschaften, von denen eine ein schwer mißgebildetes Kind mit einer Translokations D-Trisomie erbrachte. Die drei anderen Schwangerschaften endeten mit Fehlgeburten. In der zweiten Familie hatte die Mutter als Translokationsträgerin sieben Fehlgeburten gehabt, davon einen induzierten Abort und keine normalen Schwangerschaften. Der Fetus aus der Schwangerschaftsunterbrechung hatte unerwarteterweise eine balancierte Translokation analog zu der der Mutter. In der dritten Familie, in der die Translokation zuerst bei einem Mädchen mit typischem Down-Syndrom entdeckt worden war, konnte kein schädlicher Effekt des Translokationschromosoms nachgewiesen werden. Das Mädchen hatte eine Trisomie 21 und die t(13;14)-Translokation. Besondere Aufmerksamkeit wurde der Morphologie des Translokationschromosoms und der Struktur der Zentromeren gewidmet. Die G-, C- und Q-Bandentechnik zeigte, daß das Translokationschromosomen in allen drei Familien identisch war. Es war als Ergebnis einer ungleichen reziproken Translokation der betroffenen D-Chromosomen; t(13;14) (q12;p12) anzusehen. Die Frage der Notwendigkeit der pränatalen Chromosomendiagnostik bei Schwangerschaften von D/D-Translokationsträgern wird kurz besprochen.

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Supported by grants from the Foundation for Pediatric Research, the Sigrid Jusélius Foundation, and the National Research Council for Medical Sciences, Finland.     

Familial transmission of a translocation Y/14

Summary A translocation of heterochromatic material, brightly fluorescent after actinomycin D-DAPI staining, to the short arm of chromosome 14 was prenatally detected during cytogenetic examination of cells obtained by amniocentesis on the indication of advanced maternal age. Besides this abnormal chromosome, 43 autosomes and two X chromosomes were present. Silver staining made clear that an active nucleolus-organizing region was included in the translocation product. Both the intense fluorescence and the size of the translocated extra heterochromatic block were indicative of a Yq origin. Upon cytogenetic investigation of the parents, the mother appeared to carry the same t(Y;14) chromosome. Therefore, we expected a normal girl to be born. This was confirmed after birth.     

14-3-3 proteins and a 13-lipoxygenase form associations in a phosphorylation-dependent manner

Recently, we have demonstrated by two different methods that lipoxgenases (LOXs) and 14-3-3 proteins form interactions in barley embryos [Holtman, Roberts, Oppedijk, Testerink, van Zeijl and Wang (2000) FEBS Lett. 474, 48-52]. It was shown by both co-immunoprecipitations and surface-plasmon resonance experiments that 13-LOX, but not 9-LOX, forms interactions with 14-3-3 proteins. In the present report we show that the presence of 13-LOX and 14-3-3 proteins was established in high-molecular-mass complexes. Amounts of 13-LOX and 14-3-3 proteins in high-molecular-mass fractions increased during germination, but were reduced after dephosphorylation of protein extracts or competition with the 14-3-3-binding peptide P-Raf-259, indicating that 13-LOX and 14-3-3 proteins interact in a phosphorylation-dependent manner.     

Cytogenetic examination of the NOR activity in a proband with 13/13 translocation and in her relatives

Summary NOR activity in a proband with 13/13 translocation and in her relatives was examined by NOR silver impregnation and by determination of the association frequencies. In the proband, besides the fused chromosomes 13, also a chromosome 14 and a 15 showed no NOR staining. Therefore the possiblity could be ruled out that the loss of NORs was compensated by the activation of inactive NORs. However, in the proband, one chromosome 22 seemed to be more intensively stained by silver nitrate than in her parents. As in the proband, the association frequency remained constant because of an increased association tendency of chromosomes 22. The possibility is discussed that the loss of NORs was compensated by a higher NOR activity of one chromosome 22.Parts of this work are included in the doctoral thesis (M. D.) of S. H.     

Ring 13 in an adult male with a 13:13 translocation mother

A male with a ring 13 chromosome [r(13)(p11q34)], mild mental retardation, short stature, oligoasthenospermia, and few dysmorphisms is reported. His mother who had a poor reproductive history is carrier of a t(13q13q), featuring a dicentric NOR-negative element. The clinical significance of the r(13) and the mother's unusual karyotype are discussed.     

Non-random participation of chromosomes 13, 14 and 15 in acrocentric associations

Summary The patterns of association of chromosomes 13, 14 and 15 have been examined in a sample of 23 normal individuals. Significant deviations from the expectation of equality of participation have been detected in many of the individuals studied. The implications of the findings in terms of the aetiology of chromosome abnormality in the D group have been discussed.