Trisomy 3 (p23-pter) resulting from maternal translocation, t (3 ; 4)(p23 ; q35).

We describe a patient with partial trisomy 3p resulting from maternal translocation, t(3:4)(p23;q35). The male newborn who died at the age of 22 hours presented with distinct facial features including a square-shaped face with prominent forehead and depressed temporal regions, prominent cheeks, short broad nose, left cleft lip and cleft palate, malformed ears, and a receding mandible. Further findings were flexion deformities of the fingers with finger-like thumbs and mild cutaneous syndactyly 2/3 and 4/5, hypoplastic penis and scrotum with no palpable testes. He probably had a congenital heart defect and situs inversus abdominalis. Many of these features have been reported in other patients with distal trisomy 3p.     

Partial trisomy 15q due to maternal translocation t(7;15)(q35;14)]

Partial trisomy for the long arm of chromosome 15 was detected in a 21-year-old girl with severe growth and mental retardation. A balanced reciprocal translocation - t(7;15)(q35;q14) - is present in the mother.     

Partial trisomy 4q and monosomy 9p resulting from a familial translocation t(4;9)(q27;p24) in a child with choanal atresia.

A male infant with a deletion of 9p and concomitant duplication of 4q: 46,XY, der(9)t(4;9)(q27;p24), is described. Parental chromosome analysis showed a balanced maternal translocation. To our knowledge, the above cytogenetic and clinical abnormalities have not been described previously. A phenotype comparison is presented with previously reported cases concerning a deletion of 9p and a duplication of 4q.     

Partial trisomy 4q: Two cases resulting from a familial translocation t(4;18)(q27;p11)

Summary Partial trisomy of the long arm of chromosome 4 was observed in two related patients, a child aged 2 years and a woman aged 42. Cytogenetic investigation revealed that their chromosome anomalies were due to segregation of a familial balanced translocation t(4;18)(q27;p11). Some clinical and cytogenetic considerations are noted.     

Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23)

There have only been eight patients with 6p pure trisomy involving different segments: four cases resulted from a translocation or insertion and four were due to an intrachromosomal duplication. We report here the first postnatally ascertained patient with a pure 6p partial trisomy due to an interchromosomal insertion (16;6)(p12;p21.2p23)mat. This rearrangement was confirmed by fluorescent in situ hybridization (FISH) with whole chromosome 6 and 16 painting probes. The clinical findings in the present patient were similar to those observed in previous cases, including craniofacial dysmorphism, minor anomalies, and lack of severe anatomical defects; yet, the unspecificity of many of these features prevented us from delineating the 6p pure trisomy syndrome.     

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 4q: Two cases with a familial translocation t(4;18)(q27;q23)

Clinical and cytogenetic data of two related patients, both trisomic for the segment 4q27 to qter, are reported. Familial studies determined that the mothers of the two probands were carriers of the same balanced translocation between chromosomes 4 and 18. Altogether, two partial trisomies 4q, five balanced karyotypes, and one 45,X0 karyotype were found in the family. The 18 cases reported to date are reviewed with respect to the karyotype-phenotype correlation.     

Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome

Summary Leukocyte peroxidase activity was estimated in 5 patients with the juvenile form of neuronal ceroid lipofuscinosis (Spielmeyer-Vogt's disease) and in 15 healthy controls. In contradiction to recent reports normal activity of p-phenylene diamine mediated peroxidase was found in the patients. The possible role of contamination of the white cell preparation with hemoglobin is discussed.     

An apparent balanced translocation [t(9;11)(p21.2;p14.2)] in a neonate with dysmorphic features.

The role of so called balanced translocations in human morphogenesis remains puzzling. An eleven month old hispanic female was referred for neurological evaluation. The major dysmorphic features include: epicanthal folds, flat nasal bridge, small mouth, micrognathia, low set ears and cleft-palate. The cytogenetic findings by multiple banding techniques revealed an apparent balanced translocation involving chromosomes 9p and 11p i.e. 46,XX,t(9;11)(p21.2;p14.2) which, according to the authors, has not been previously reported.     

Paternal transmission of a B/D translocation,t(4p-; 14p+ or 15p+), resulting in a partial 4p trisomy

Summary In a mentally retarded boy without gross malformations, karyotype analysis showed a partial 4p trisomy. His phenotypical normal father is a carrier of the balanced translocation t(4p-; 14p+ or 15p+).

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Zusammenfassung Bei einem Jungen, der in seiner geistigen Entwicklung zurückgeblieben war, jedoch keine schweren Mißbildungen aufwies, wurde eine partielle 4p-Trisomie gefunden. Der phänotypisch normale Vater ist Träger einer balancierten Translokation t(4p-; 14p+ oder 15p+).

     

Pure partial trisomy 5q33-->5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation.

A 14-year-old male was referred for evaluation of mental retardation with short stature and dysmorphic features. His karyotype was 46,XY,der(14)t(5;14)(q33;p12)pat, resulting in a pure partial 5q33-q35 trisomy due to the adjacent-1 segregation of a paternal balanced translocation. Paternal blood karyotype revealed a balanced translocation t(5;14)(q33;p12) retaining Ag-Nors. To date, only two cases of pure partial 5q trisomies spanning this region have been reported. Analysis of these cases and the one we report does not allow the delineation of a specific phenotype.     

Tertiary trisomy of 10p15.pter and 14pter.ql3 due to maternal translocation t(10;14)(p15;q13)

Double partial trisomy resulting from 3:1 segregation of the respective chromosomal segments of the chromosomes involved in a balanced translocation in meiosis is rarely reported in the literature. We present here a first patient with multiple congenital malformations associated with double partial trisomy of 10pter-p15 and 14pter-q13 resulting from 3:1 segregation of maternal balanced translocation t(10;14)(p15;q13). Proximal partial trisomy of chromosome 14 and subterminal trisomy of the short arm of the chromosome 10 are rare. The present case is the first case with double partial trisomy of these segments resulting from 3:1 segregation of a maternal balanced translocation.     

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).     

Jumping translocation of 15q24-qter resulting in partial trisomy: a case report

We report on a jumping translocation with five different cell lines detected in four tissues in a 2-year-old patient. This rare type of chromosomal abnormality (not more than 30 cases published so far) proved to be a series of non-reciprocal translocations of the 15q24-qter donor chromosome segment to the telomeric region of chromosomes 5q, 10q, 16q and 19p, respectively. The process, in addition to a few cells without translocation, resulted in partial trisomy of 15q24-qter which was associated with somatic overdevelopment in the patient, with hemihypertrophy and minor anomalies. The phenotype of our patient was different from that of the other two patients found in the literature having the same donor chromosome segment involved in a similar rearrangement. Possibly, the difference in the phenotype lies in the various ratios of somatic mosaicism with five cell lines, in particular the presence of normal one which is extremely rare in patients with jumping translocation. Here we discuss the various ways on how the rearrangement could arise.     

Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).

Partial trisomy 10q was observed in an eighteen year old girl with severe mental and physical retardation, microcephaly, a high forehead, microphthalmia, antimongoloid slants, low set ears and severely malformed extremities. A balanced translocation t(10q-;18q+), present in several family members, was identified by fluorescence and thermic denaturation techniques; the break points were 10q25 and 18q23. A comparison made with seven similar cases suggests a common, phenotypical appearance which may be of diagnostic value.     

Partial trisomy of the long arm of chromosome 2 by malsegregation of a maternal translocation t(2;7)(q321;p22)

A patient with partial trisomy 2q due to the malsegregation of a balanced maternal (2;7) translocation is reported. The proposita, who died a few hours after birth, presented the characteristic clinical features: microcephaly, prominent forehead, hypertelorism, depressed nasal bridge, upturned nostrils. Her karyotype was 46,XX,der(7),t(2;7)(q321;p22) mat.     

7 cases of trisomy 2q34 leads to 2qter resulting from a familial t(2;8)(q34;23)]

Seven patients from two different families are trisomic 2q34 leads to 2qter due to segregation of a familial t(2;8)(q34;p23). The clinical features are characteristic: microcephaly, a narrow forehead with bossing and temporal retraction, hypertelorism, palpebral fissures slanted downwards, large irides, and a very concave margin of the lower eyelid. Mental retardation is severe with a mean IQ of 50.     

Partial trisomy 2q and familial translocation t(2;18)(q31;p11)

Summary This report describes a malformed infant with distal 2q trisomy/ distal 18p monosomy due to adjacent segregation of a familial t(2;18). The rearrangement was present in four generations, and linkage studies were performed.