Trisomy 18q: 46,XX,-10,+der(10) t(10;18) (p15;q12) pat: a case report.

A 2-month-old female with intrauterine and postnatal growth retardation, multiple congenital anomalies, absent right kidney, congenital heart disease was investigated. Her karyotype revealed, 46,XX,-10,+der(10), t(10;18) (p15;q12) pat. The child died at 2 months 2 weeks. This is the third case of trisomy 18q resulting from translocation of chromosome 10 and 18.     

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.     

Reciprocal syndromes caused by deficiency duplication resulting from maternal t(10;18)(p12;q22) translocation

The detection of a familial translocation, t(10;18)(p12;q22), has made possible the observation in type and countertype of two related persons with opposite chromosomal imbalance: trisomy 18q22----18qter with monosomy 10p12----10pter in one of the two and monosomy 18q22----10pter in the other. In each case the abnormalities attributable to monosomy overrule those attributable to monosomy overrule those attributable to the associated trisomy.     

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.     

Two new cases of trisomy 10q21 to 10qter in two sisters due to paternal translocation t(9;10) (q34;q24)]

Two sisters with multiple congenital malformations were shown to be trisomic for 10q24 to 10qter as a consequence of malsegregation of the balanced paternal translocation t(9;10) (q34;q24). Comparison of their phenotype with that of other patients reported in the literature confirms the individuality of the partial 10q trisomy syndrome.     

Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation

We describe an eleven day-old boy and his first degree double cousin who both have distal trisomy 10q syndrome. Their cytogenetic analysis using GTG-banding showed an unbalanced translocation 46, XY, -20, +der(20), t(10;20)(q22.3, p11) mat and 46, XX, -20, +der(20), t(10;20)(q22.3, p11) mat. The translocation was confirmed by FISH. We have found balanced translocation t(10;20)(q22.3; p11) with cytogenetic and FISH studies in the mothers and maternal grandfather of these children. Our cases had typical craniofacial and visceral anomalies of this syndrome. However case 1 had an agenesia of corpus callosum which was not previously described and case 2 had hypertrophied cardiomyopathy and cliteromegaly which were previously described as rare anomalies for this syndrome.     

Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture

A case of twin boy with partial trisomy for the distal part of the long arm of chromosome 10 (10q24-->qter) and a concomitant monosomy 14(q32-->qter) is reported. The chromosomal abnormalities resulted from a paternal balanced translocation involving chromosomes 10 and 14. An additional clinical feature was observed, viz. hypoplastic lungs. The proband's phenotype was compared to previously reported patients with partial trisomy 10q or 14q deletion.     

Molecular cytogenetic characterization of a familial balanced reciprocal translocation t(11;18) (q13.3; q23) associated with pregnancy wastage

A new male patient associated with a pregnancy wastage was detected in China. Cytogenetic analyses including G-banding, chromosome painting and observation of synaptonemal complexes (SCs) demonstrated that the pregnancy wastage was associated with a balanced reciprocal translocation t(11;18) (q13.3; q23). The proband was the carrier of the translocation and his karyotype was 46,XY,t(11;18)(11pter-->11q13.3:: 18q23-->18qter; 18pter-->18q23::11q13.3-->11qter). The pedigree was analyzed based on a G-banded karyotype of the nine familial members. The translocation chromosomes came from the proband's mother. The result of the SC observation in the proband showed that each of the spermatocytes displayed one quadrivalent during their pachytene stages. In the quadrivalents, there existed homologous and nonhomologous synapses and the latter occurred widely during early, middle and late pachytene stages. The reasons and genetic basis of the pregnancy wastage are discussed.     

2 cases of partial trisomy 10p due to a paternal translocation t(10p;18)(p13;q23)]

Two brothers trisomic for the distal two thirds of 10p are reported. Trisomy results from the malsegregation of a familial translocation rcp (10;18)(p13;q23) present in the father, a half-brother and the grand-father of the propositi. The phenotype is comparable to that of other 10p trisomic patients reported in the literature.     

Partial trisomy 10q

Summary Five cases from two nonrelated families with partial trisomy 10q due to a reciprocal translocation t(10;17)(q25;p13) and t(10;11)(q24;q23), respectively, are reported. The phenotypic findings are compared with those of 17 previously published cases; the clinical data justify the conclusion that cases with trisomy 10q show a specific syndrome of mental retardation and malformation characterized by psychomotor retardation, growth retardation, hypotonia, high forehead, flat face, fine and arched eyebrows, antimongoloid slant of the eyes, narrow palpebral fissures, hypertelorism, short nose, bowshaped mouth, short neck, (kypho)scoliosis, and in some cases microcephaly.     

Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin

The subtelomeric region of human chromosome 4q contains the locus for facioscapulohumeral muscular dystrophy (FSHD). The FSHD mutation is a deletion within an array of 3.3-kb tandem repeats (D4Z4). The disease mechanism is unknown but is postulated to involve position effect. A closely related 3.3-kb array on chromosome 10qter, in contrast, is not associated with a disease phenotype. We show here that the 4q homology on chromosome 10 is not confined to the 3.3-kb repeats but extends both proximally (42 kb) and distally to include the telomere. We have also identified the most distal expressed gene on 10q known so far, mapping only 96 kb from the 3.3-kb repeat array. A 4q variant has also been identified; there is 92%nucleotide identity between the two 4q forms, 4qA and 4qB. The 4qter and 10qter forms show homology to other chromosome ends, including 4p, 21q, and 22q, and these regions may represent a relatively common subtelomeric domain.     

Monosomy 10q26-qter and trisomy 11q13-qter as a result ofde novo unbalanced translocation

A male infant with partial monosomy 10 q and partial trisomy 11q as a result ofde novo unbalanced translocation between the long arms of chromosomes 10 and 11: der(10)t(10;11)(q26;q13) is described. He had craniofacial dysmorphy, congenital heart defects, urogenital and cerebral anomalies, and severe developmental delay. To the best of our knowledge, this is the first report of this combination of chromosomal abnormalities.     

De novo balanced translocation (2;10)(q24;q22) associated with mental retardation

We report a case of a reciprocal translocation between the long arms of the 2 and 10 chromosomes observed in a 14-year-old male with mild mental impairment, compulsive and obsessive behavior. The apparently balanced translocation was characterized by fluorescence in situ hybridization and the karyotype was 46, XY, t(2;10)(q24;q22). The way by balanced chromosomal translocations can lead to a disease phenotype are reviewed and discussed.     

Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)--a case report and a family study

This paper presents the family of a dysmorphic child with the phenotypic features of Turner's syndrome and 5q trisomy, whose parents are both carriers of a balanced translocation. The parents' karyotypes are 46,X,t(X;5)(p11.1;q31) and 45,XY,der(13;14)(q10;q10), respectively.     

Trisomy 15q23----qter due to a de novo t(11;15)(q25;q23) and assignment of the critical segment

A 10 10/12-year-old boy with a de novo t(11;15)(q25;q23) leading to trisomy 15q23----qter was studied. The clinical features were compatible with other cases of distal trisomy 15q. The critical segment for this trisomy is tentatively assigned to bands 15q25----qter.     

Partial proximal trisomy 10q syndrome: a new case

We report a case of partial proximal trisomy of the long arm of chromosome 10 confirmed by fluorescence in situ hibridization (FISH) performed with whole chromosome 10 specific painting and specific yac clones. The phenotypic findings, compared to those found in other published cases with the same karyotype, support the recognition of a distinctive partial proximal trisomy 10q syndrome (10q11-->q22).     

Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18

We report a recurrent partial monosomy of 18p10-->11.2 and proximal partial trisomy of 18q10-->21.3 caused by a maternal pericentric inversion of chromosome 18, involving breakpoints p11.2 and q21q21.3 Based on cytogenetics and FISH analysis, we speculate that the recurrent chromosome abnormality in the proband and in the fetus was the result of a translocation, possibly in a germ cell or germ cell precursor, between the maternal normal 18 and her inverted 18, resulting in maternal germinal mosaicism, i.e. 46,XX,inv(18)/46,XX,t[18;inv(18)][q10;q10]. The unbalanced karyotype of the proband and the fetus is 46,XY,+18,der[18;inv(18)][q10;q10]. To the best of our knowledge, there are no reports of this combination of proximal 18p monosomy and proximal 18q trisomy. The other interesting observation was association of Hirschsprung's disease in the proband.     

Studies of the meiotic behavior of a translocation t(10;13)(q25;q11) in an oligospermic man

Summary An new type of translocation, t(10;13)(q25;q11), is observed in a phenotypically normal male who was examined for subfertility. The meiotic behavior of the rearranged chromosomes indicates that crossing-over is very frequent in a rather small segment such as the short arm of chromosome 13 and constant in the distal band of the long arm of chromosome 10.