A jumping translocation (5p;15q), (8q;15q), and (12q;15q) (author's transl)]

Three balanced karyotypes (5p;15q), (8q;15q), and (12q;15q) were found simultaneously in a child with the Willi-Prader syndrome. The hypothesis is presented of a "jumping# translocation by affinity of telomeric and interstitial palindromes. The relationship between the Willi-Prader syndrome and a juxtacentric anomaly of the long arm of chromosome 15 is discussed.     

Partial trisomy 14q and familial translocation (2;14) (q12;q13).

A female patient with moderate psychomotor retardation, minor anomalies and proximal trisomy 14q due to segregation of a maternal translocation is reported.     

Trisomy 11 q (q23.1 - qter) through maternal translocation t(11;22) (q23.1;q11.1). A new case]

A 4-year-old boy with partial trisomy 11q resulting from malsegregation of a maternal translocation, t(11;22)(q23.1;q11.1), exhibits the following malformations: severe mental deficiency; growth retardation and hypotonia; brachycephaly with flattened occiput and forehead; facial dysmorphia; pre-auricular fistula. These features are in good agreement with the syndrome recently described for partial trisomy 11q. The translocation appears to be identical in that in three other families already reported.     

Partial duplication 14q/deletion 2q in two sibs due to t(2;14) (q37.1;q31.2) pat

Two siblings are described with duplication 14q/deletion 2q due to a paternal translocation (2;14) (q37.1;q31.2). The first one, a boy, born at term, lived 14 days. The second one, a female foetus, was born after induced labour when the anomaly was discovered by way of amniocentesis. They both had almost identical phenotypes. From a study of the literature it is inferred that a typical asymmetric head form, low set abnormal ears, micrognathia, long upper lip, rib anomalies, camptodactyly, long fingers and contractures are prominent features of the syndrome.     

A case of Alagille's syndrome with translocation (4;14) (q21;q21)

This paper reports a case of Alagille's syndrome, in association with a translocation 46,XY,t(4;14)(q21;21). The possible relationship between this autosomal dominant syndrome and the apparently balanced chromosomal rearrangement is discussed.     

Translocation (Y;19)(q12;q13) and azoospermia

An azoospermic male with a 46,X,t(Y;19)(q12;q13) karyotype is described. The comparison with 12 similar cases reveals that the Y breakpoints are usually on the long arm whereas the autosomal ones seem to be at random. Since a premeiotic origin is inconsistent with the arrest at diakinesis seen in those cases with meiotic studies, we postulate that a balanced t(Y;A) arises either via a chromatid exchange in the meiotic interphase or through a chromosome exchange in spermiogenesis or at the one cell stage of the zygote.     

Familial translocation t(10;21)(q22;q22)

Summary A family is described with a translocation t(10;21)(q22;q22) transmitted through three generations. This family was studied for the apparition of several miscarriages and two sisters with multiple malformations. Both children had a probably partial trisomy of chromosome 10 and a monosomy of chromosome 21 due to a maternal adjacent-2 meiotic segregation.     

Trisomie 10 partielle par translocation familiale t(1;10) (q44;q22)

Résumé Chez une enfant anormale, on observe un excès de matériel chromosomique sur la paire 1:1q+, et une translocation t(1q+;10q-) est dépistée dans la famille.L'analyse du caryotype après «dénaturation thermique ménagée» a permis d'individualiser le chromosome C anormal (10q-), de définir l'emplacement exact des points de cassure et de lier essentiellement l'état pathologique du patient à une trisomie partielle du bras long du chromosome 10.Cette trisomie se traduit principalement par une arriération mentale, une hypotrophie, des anomalies oculaires, une fente palatine, une mal-implantation des oreilles, un micrognathisme, des anomalies du squelette et une cardiopathie.

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Partial trisomy 10 due to hereditary translocation t(1;10) (q44;q22)

Summary A chromosome 1q+was observed in an abnormal girl. A balanced t(1q+;10q-) was found in the family.Application of a controlled thermic denaturation technique allowed recognition of the abnormal C as a 10q-and localization of the break points (1q44 and 10q22).The partial trisomy 10q of the proband had induced mental retardation, severe retardation of growth, ocular anomalies, agenesis of the palate, low implantation of the ears, micrognathia bone anomalies and cardiac malformation.

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Zusammenfassung Bei einem Mädchen mit Mißbildungen wurde ein Chromosom 1q+beobachtet. Eine balancierte t(1q+, 10q-) fand sich in der Familie.Die Identifikation des abnormen C als 10q- wurde durch Anwendung kontrollierter Wärmedenaturierung erreicht; auf diesem Wege wurden auch die Bruchpunkte identifiziert.Die partielle Trisomie 10q hatte bei dem Probanden einen geistigen Entwicklungsrückstand, eine schwere Wachstumsstörung, Augenanomalien, Fehlen des Gaumens, tief ansetzende Ohren, eine Mikrognathie, Knochenanomalien und eine Herzmißbildung zur Folge.

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Chargée de Recherche I.N.S.E.R.M. Chef de Service à l'Institut Pasteur de Lyon.

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Chargés de Recherche C.N.R.S.     

47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat

Summary Report of a supernumerary extra chromosome der(11;22)(q23; q12) resulting from a balanced translocation in the mother. The propositus suffers from mental deficiency, deafness and extreme muscular weakness and exhibits cleft palate, a labial lymphangioma and an atrial septum defect. Since the features of partial trisomy 11q23 frequently associated with a translocation t(11q;22q) bear similarities with the cases of so called trisomy 22 one might conjecture that some of these observations are in fact products of translocations including partial 11q.     

Subfertile couple with t(4;22)(q23;q11.2)

A couple was referred for cytogenetic examination due to idiopathic miscarriages. The proband proved to be a carrier of chromosomal translocation and her partner's karyotype was found to be normal. The karyotype of the proband is 46,XX,t(4;22)(q23;q11.2) and can be regarded as a reason of fertility problems in the investigated couple. The risk of further miscarriages is high, but the risk of a progeny with abnormal karyotype is rather low, as the progeny would probably have lethal imbalances.     

Trisomy 6qter resulting from a familial (6;10) (q23;q26) translocation

An infant deceased at 2 months of age was found to have a 46,XY,-10, +der(10),t (6;10) (q23;q26) mat karyotype. Since the clinical findings were similar to those of the trisomy 6qter syndrome, the present observation agrees with the assignment of the 6q23----qter segment as the pathogenetic determiner of this entity.     

Partial trisomy 2q and familial translocation t(2;12)(q31;q24)

Summary Report is given of a boy with trisomy of the distal part of the long arm of chromosome 2 (q31ter) due to a balanced 2/12 translocation in the mother: 46,XX,t(2;12) (q31;q24). Other phenotypically normal carriers of this balanced translocation are the patients sister and grandfather. The patient shows a variety of dysplastic signs mainly of the face.     

A case of (13q;18q) translocation with proximal 13q monosomy

Summary A case of partial monosomy of the 13p terminal to 13q12, associated with a de novo 13/18 translocation, is reported. The symptoms appeared to be derived from both 18q- and partial monosomy 13, the latter giving rise to: high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nasal bridge, hypoplastic helix, and large clitoris. Serum Ig-A and Ig-M levels were normal in our case.