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.     

Partial trisomy 11q syndrome (11q23.1-->11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisation

In this report we describe the identification of a de novo 46, XX, 13q + by multicolour fluorescence in situ hybridisation (M-FISH), as a partial distal 11q trisomy (11q23.1-->11qter). The clinical phenotype association with this distal 11q trisomy is briefly reviewed.     

Duplication 11 (q22----qter) in an infant. A case report with review

A male infant with partial duplication of the long arm of chromosome 11 (11q22----qter) is described with a hitherto unreported translocation. In most cases 11q trisomy is associated with 11q/22q translocation and a 3:1 meiotic disjunction with 47 chromosomes. In a few cases the 11q translocation is associated with a partial deletion of other autosomes and a total of 46 chromosomes. In the present case, translocation to 9p is involved and no apparent deletion of 9p was noted, providing an opportunity to delineate the phenotypic features due to duplication of 11q. A comparison is made between the findings of partial 11q trisomy and 11q/22q translocation.     

Partial trisomy of 11 and 22 due to familial translocation t(11;22) (q23;q11), inherited in three generations

Summary A 1-year-old girl with partial trisomy of 11 (q23qter) and 22 (pterq11) is presented. She had severe mental retardation, cleft palate, congenital heart disease, congenital dislocation of the hip, and other anomalies.The extra acrocentric chromosome was identified as der(22),t(11;22) (q23;q11) from a familial translocation and by G-and R-banding methods. The mother and the maternal grandfather were carriers of balanced rcp(11;22) (q23;q11) translocations.The possible relations between phenotypic features and the karyotypes of partial trisomy 11 and 22 are discussed.     

11q Aneuploidy: Partial monosomy and trisomy in the children of a mother with a t(3;11)(p27;q23) translocation

Summary A woman with a balanced translocation t(3;11)(p27;q23) has had three abnormal children. The first child died in infancy, and of the two survivors who show segregation of the derivative maternal translocated chromosomes, one exhibits partial trisomy 11q and the other partial monosomy 11q. The two cases are compared with each other and with reported examples. Moreover, 11q break points are discussed.     

Tertiary trisomy (22q11q),47,+der(22),t(11;22)

Summary We describe a case of tertiary trisomy (22q11q) 47,XX,+der(22),(22pter22q13: : 11q2511qter) in a child with mental retardation, cleft palate, and congenital heart disease resulting from 3: 1 meiotic nondisjunction in a maternal (11;22) translocation carrier. The clinical findings in previously reported cases are reviewed and compared with the features of reported patients with partial trisomy 11q and trisomy 22 syndromes. Half of the ten reported families had additional balanced translocation carriers who may have an increased risk of having a liveborn child with an MCA/MR syndrome, although none have been reported to date.     

Novel translocation t(3;11)(p21;q24) in multiple myeloma characterised by FISH

We present a 72 year old man with multiple myeloma (MM). Cytogenetic and FISH analysis of bone marrow aspirate showed a novel translocation -der(11)t(3;11)(p21;q24). The unbalanced karyotype led to substantial partial trisomy for chromosome 3p and small partial monosomy 11q. Structural rearrangements of chromosome 3 are uncommon in MM and these are reviewed. The patient died 2 years after the diagnosis of MM was made.     

Partial trisomy 18(q11 leads to qter) in an infant and aborted fetus resulting from a balanced paternal translocation t(13;18)(q32:q11).

Partial trisomy 18 is described in a two month old female with severe mental, motor and growth retardation, associated with multiple congenital anomalies characteristic of complete trisomy 18. Trisomy for almost all of 18q resulted from adjacent I segregation of a paternally inherited translocation t(13; 18)(q32:q11). The balanced translocation was observed in three generations of the family. Partial trisomy 18q identical to that observed in the proband was found in a subsequent miscarriage.     

Partial trisomy 16q resulting from maternal translocation 11p/16q

A 3 1/2-year-old male with partial trisomy of the long arm of chromosome 16 resulting from a maternal balanced translocation 11p;16q is described. Clinical findings are compared with similar case reports from the literature.     

Meiotic chromosome segregation in human t(11;22)(q23;q11) carriers: a theoretical consideration

The t(11;22)(q23;q11) translocation is the most frequently encountered familial reciprocal translocation in humans. In the majority of reported cases ascertainment has been through the birth of a child with the chromosomal constitution 47,XX,+der(22) or 47,XY,+der(22), i.e., tertiary trisomy. Previous segregation analysis of familial cases showed a number of interesting features. Thus, euploid unbalanced genotypes resulting from adjacent segregation are absent in the progeny, and only tertiary trisomic offspring are recovered. To explain this unusual progeny output we present here a model for the meiotic behavior of this translocation in the carriers based on an analysis of cytogenetic data of progeny of carriers. This model predicts the formation of a chain trivalent with chromosome order 11-der(11)-22 during prophase I and its predominant alternate orientation at metaphase I.     

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.     

Precocious puberty associated with partial trisomy 18q and monosomy 11q

We report a 10-years-old female patient with a partial trisomy 18q and monosomy 11q due to a maternal translocation. The phenotype of our proband is partially common with Jacobsen syndrome and duplication 18q but she has also some atypical anomalies such as precocious puberty, a retinal albinism and hypermetropia. Based on cytogenetics and FISH analysis, the karyotype of the proband was 46,XX,der(11)t(11;18)(q24;q13). To the best of our knowledge, this is the first report of precocious puberty associated with either dup(18q) or del(11q) syndromes.     

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.     

Partial trisomy 11q as the result of sporadic translocation

Summary Partial trisomy 11q due to a sporadic translocation was found in a mentally retarded girl with multiple abnormalities. The proportion of sporadic translocations involved in the total incidence of partial trisomies is discussed.     

Partial trisomy 14q due to maternal t(4;14)(p16;q32) in a dysmorphic newborn

Partial Trisomy 14q is a rare chromosomal disorder that mostly results from a parental translocation. We report here a newborn boy with partial trisomy 14q and dysmorphic features that are compatible with previously reported cases. Conventional cytogenetic analysis revealed an extra chromosomal segment at the end of the short arm of chromosome 4. In order to determine the origin of this chromosome region we used subtelomeric FISH technique. Based on the results of these cytogenetic studies and the physical examination, this dysmorphic case was diagnosed as partial trisomy of 14q and his karyotype determined as 46 XY, der(4)t(4;14)(p16;q32) resulting from a balanced maternal translocation identified as 46,XX, t(4;14)(p16;q32).     

Trisomy 20pter»q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother

Summary A 31-year-old boy revealed moderate motor and mental retardation, normal growth, a congenital heart defect and multiple minor dysmorphic signs and anomalies including brachycephaly, orbital hypotelorism, upward slanting palpebral fissures, short and beaked nose, full cheeks, malformed auricles, hypoplastic external genitalia, rocker-bottom feet with prominent heels, and various minor radiologic anomalies of bones. An extra chromosome in his karyotype appeared to represent trisomy of the short arm of chromosome 20 due to a maternally inherited balanced t(13;20)(p11;q11) translocation.     

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.     

Partial trisomy for the segment 21(q11----qter) resulting from a de novo translocation between chromosomes 5 and 21

A 3 1/2-year-old boy is described whose Down syndrome resulted from partial 21 trisomy through unbalanced de novo translocation between the long arm of chromosome 21 and the short arm end of a No. 5: 46,XY,t(5;21)(p15;q11). This case is discussed and compared with 17 others collected from the literature, some of which derived from a maternal balanced translocation.     

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.     

De novo (11;13) translocation

Summary The clinical features and cytogenetic Giemsa banding studies of a case of partial trisomy 4p [47,XX,+der(21), der(4), der(21), t(4p 21p;4q 21q) mat] are presented. This aberration resulted from a reciprocal translocation rcq(4p 21p; 4q 21q) found in the mother.