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PubMedDate not supplied

Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy.

A 2-year-old, short, microcephalic and developmentally retarded boy revealed a pattern of multiple minor anomalies, hypospadias and a dysplastic right kidney. Maternal age at delivery was 41 years. His karyotype showed two cell lines, one apparently normal, the other with a 1p+ chromosome. FISH examinations showed that the segment attached to 1p was from chromosome 16, and molecular investigations disclosed maternal heterodisomy 16, except for the segment (16)(pter-->p13.1) for which there was mosaicism between trisomy and uniparental disomy (UPD). Most likely, the zygote was trisomic for chromosome 16 due to a maternal meiosis I nondisjunction; a somatic rearrangement would have then occurred at an early postzygotic stage whereby a segment of the paternal chromosome 16 was translocated onto 1p. Subsequently, the paternal chromosomes 16 and 16p- had been lost in the normal and the translocation cell line, respectively. The chromosome aberration was detected secondary to the disclosure of maternal UPD 16 because of the demonstration of a paternal band at several loci on distal 16p. This case shows that chromosome aberrations may be formed in a more complicated manner than primarily assumed. Hence, the phenotype might also be due to underlying factors such as UPD or undetected mosaicism in addition to the more obvious implications of the chromosome rearrangement itself (e.g. partial trisomy).

Abnormalities, Multiple↗
PubMed1995

Transient myeloproliferative disorder associated with trisomy 21, a wide range syndrome: report of two cases with trisomy 21 mosaicism.

Transient myeloproliferative disorder (TMD) is an uncommon syndrome strongly associated with abnormalities of chromosome 21. Blast transient proliferation appears most frequently at neonatal age and usually resolves spontaneously in two or three months. Two patients, a girl and a boy, with neonatal onset of TMD are reported. They both presented trisomy 21 mosaicism according to bone marrow cytogenetic analysis. Patient 1, on one end of the spectrum, showed a "classic" benign course with rapid resolution and favorable outcome. Patient 2, on the other hand, had two blast outbursts both followed by spontaneous remissions. He failed to thrive and never reached a good general condition, dying at 5 months of age from a respiratory infectious complication. The necropsy showed generalized extramedullary hemopoiesis without evidence of bone marrow blast infiltration or myelofibrosis. TMD has some clinical and laboratory features that make it unique and distinguishable from true congenital leukemia with which it may be initially mistaken. It usually has a benign course followed by a favorable outcome. As trisomy 21 mosaicism may not have overt phenotypic stigmata, it is possible that many cases of TMD in these children may have a silent, non-detected course. We also conclude that a favorable outcome is not always to be expected in TMD.

Down Syndrome↗
PubMedDate not supplied

Cephalic index is not a useful sonographic marker for trisomy 21 and trisomy 18.

OBJECTIVES: To evaluate whether the cephalic index (CI) in trisomy 21 (T21) and trisomy 18 (T18) fetuses is different from that in euploid fetuses, and if so, is this difference of clinical utility. METHODS: Retrospective. Over an 18-month period, patients attending a single centre for routine advanced maternal age amniocentesis were recruited for a prospective study of ultrasound soft markers of aneuploidy. This prospective database was searched for cases with the following criteria: (1) occipitofrontal diameters (OFD) measured at least twice; (2) gestational age between 98 and 126 days either by ultrasound-confirmed menstrual dates or early second- trimester biometry; (3) no major central nervous system abnormalities detected on prenatal ultrasound, and (4) normal fetal karyotype. This constituted the control group. The study group consisted of all cases of prenatally diagnosed T18 and T21 identified in the same time period with criterion 2 as above. The fetuses in the study group had the OFD measured in a blinded fashion from the biparietal diameter images. CI (= mean biparietal diameter/mean OFD) was calculated for all fetuses. Pearson coefficient and regression analysis were used to determine independence of CI to gestational age in the control group. Standard descriptive statistics were used to describe interval data and two-tailed t test was used to compare means between the study and control groups. ROC curves were constructed to evaluate the clinical efficacy of CI for T18 and T21. RESULTS: Five hundred and ninety-seven fetuses were available for analysis. There were 551 fetuses in the control group and 46 in the study group. Within the study group, there were 30 T21 and 16 T18 fetuses. Within the control group, CI was independent of gestational age (R = 0.026, p = 0.922). Mean CI for the control group was 0.802 (SD 0.040) and this was not statistical different from either the T21 group (mean 0.816, SD 0.042, p = 0.067) or the T18 group (mean 0.792, SD 0.057, p = 0.491). Area under the ROC curves was determined for both T18 and T21 and both had poor results (0.545 and 0.598, respectively). When CI was evaluated in the control group according to the two main ethnic groups in the study, there was a trend towards a statistical difference (p = 0.046) between the fetuses of Oriental and Caucasian mothers. CONCLUSIONS: In this retrospective study, CI was not found to be statistically different between the study and control groups. Although a trend towards significance was seen with T21, this difference is not clinically useful. There may be interethnic differences in the CI between fetuses. CI is not useful for aneuploidy screening by ultrasound.

Biomarkers↗
PubMed2005

Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype.

We report on a patient with a rec(20)dup(20q) chromosome abnormality derived from a paternal chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q.

Abnormalities, Multiple↗
PubMed1994

A characteristic sequence of trisomies starting with trisomy 7 in benign thyroid tumors.

The cytogenetic results from a series of 113 thyroid hyperplasias and adenomas are reported; 15 showed clonal karyotypic alterations. In addition to a group showing translocations involving 19q13, another subset of lesions characterized by polysomies can be found. Based on our own cases belonging to this subset and a review of the cases reported in the literature, we conclude that the characteristic feature of this group is a sequence that always starts with trisomy 7, but that sometimes even leads to chromosome numbers in the hypertriploid range. This subset of thyroid tumors may be an example of a more common genetic pathway in human solid tumors.

Adult↗
PubMed1981

Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13).

Two brothers with duplication of the distal segment of 22q inherited from a t(6;22)(q27;13) translocation carrier mother presented with intrauterine growth retardation, congenital hydrocephalus, cleft palate, genital hypoplasia with cryptorchidism and hypospadias, and similar facial features including mongoloid position of eyeaxes, hypertelorism, small nose with prominent bridge, prominent upper lip, and small mandible. In addition the second sib revealed renal hypoplasia, arrhinencephaly and pentalogy of Fallot. The patients died at ages eight days and one day, respectively. The two brothers appear to be the first instances of familial trisomy 22q13 leads to qter.

Chromosomes, Human, 21-22 and Y↗
PubMed1978

Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p.

An 8-year-old girl with profound mental retardation and a neurologic syndrome associated with morphologic abnormalities was found to have a supernumerary small submetacentric chromosome. Several members of her family carried a balanced translocation t(12;18)(p12;q11), and the child's karyotype could be explained by 3:1 maternal segregation (tertiary trisomy). The proband was trisomic for 12p13 and 18p. A gene dosage effect was demonstrated for triosephosphate isomerase and glyceraldehyde-3-phosphate in erythrocytes and leukocytes allowing us to assign the corresponding loci to the tip of the chromosome 12 short arm.

Carbohydrate Epimerases↗
PubMed1988

Chronic myelomonocytic leukemia with trisomy 8 and a related clone with trisomy 8 and t(15;17).

We describe a patient with chronic myelomonocytic leukemia who showed trisomy 8 in 100% of his bone marrow metaphases. Of interest was the finding that 20% of the Giemsa-banded metaphases also showed t(15;17)(q22;q21), with breakpoints indistinguishable from those seen in cases of acute progranulocytic leukemia (APL). The patient showed no morphologic or clinical evidence of APL, and he died after 6 months, with no evidence that the disease had progressed to acute leukemia. Although cytogenetically the breakpoints appeared to be the same as those in APL, we suspect that this patient's translocation may have differed at the molecular level from the t(15;17) commonly seen in APL.

Aged↗
PubMed1994

Trisomy 11 and other nonrandom trisomies in congenital fibrosarcoma.

Chromosome studies in a 7-week-old female infant with an intraabdominal malignant fibrosarcoma showed a hyperdiploid karyotype of 50,XX, +der(6)del(6)(p23)add(6)(q11), +8, +10, +11,add(12)(p13). Trisomy 11 appears to be a nonrandom primary cytogenetic abnormality in the congenital or infantile form of this mesenchymal tumor and is also a nonrandom gain in congenital mesoblastic nephroma. A possible developmental link between these two mesenchymal tumors, mediated by a gene or genes on chromosome 11 is postulated.

Chromosomes, Human, Pair 11↗
PubMed1992

Health supervision and anticipatory guidance for children with genetic disorders (including specific recommendations for trisomy 21, trisomy 18, and neurofibromatosis I).

A new model for care of children with genetic disorders has emerged from the pediatric and genetic communities in the last decade. This strategy incorporates the basic principles of well-child care, including ongoing psychological support for families, health screening, and prevention, into health supervision visits for children with these conditions. The same types of guidelines that have been developed for well children can also be applied to the routine follow-up and screening of children with these special health care needs. A number of general issues are applicable in the discussion of health supervision guidelines: correct diagnosis, analysis of the natural history of the condition, critical review of screening modalities and interventions, ongoing psychological support, and genetic counseling. With these points in mind and after a thorough review of the natural history of a disorder, guidelines can be developed and often applied to the primary care setting. Down syndrome is an ideal condition to which one can apply such a model because most children are cared for by primary care pediatricians, and the natural history is relatively well studied. Discussion of health provision in Down syndrome brings out some of the controversies regarding routine screening and review of interventions. Discussion of the natural history and uncertainties evident in the care of infants with trisomy 18 exemplifies the important issue of ongoing psychological support. Review of the natural history of neurofibromatosis emphasizes all of the principles involved in providing this model as a framework for health supervision. One of the key identified but unresolved issues is the decision as to when a primary care pediatrician can orchestrate the care on his or her own versus referral to a multidisciplinary team of specialists. In some conditions such as Down syndrome, it seems obvious that the primary care pediatrician can manage most of the care with periodic and appropriate referral to the necessary specialists. On the other hand, children with cystic fibrosis, meningomyelocele, and craniofacial syndromes almost always need referral to the specialist team because of the rarity of the disorder and the complex number of specialists involved in management. A condition such as NF-1 falls somewhere in between. Most children can be cared for in their childhood years by the pediatrician with referral when a symptom or sign emerges, but others would argue that all children with NF-1 need to be seen by a multidisciplinary team.(ABSTRACT TRUNCATED AT 400 WORDS)

Child↗
PubMed1999

Chromosomal abnormalities: trisomy 18, trisomy 13, deletions, and microdeletions.

The birth of an infant with a chromosomal abnormality such as trisomy 18, 13, Wolf-Hirschhorn (4p-) syndrome, Cri-du-chat (5p-) syndrome, and the microdeletion syndromes creates a stressful and devastating experience for families. Many of these disorders have severe consequences encompassing major malformations and mental retardation. With increasing diagnostic accuracy, clinicians can now appreciate the wide variability and natural history of these disorders. Although many of these infants do not survive the neonatal period, others do. Neonatal nurses have the opportunity to assist families in these situations by providing anticipatory guidance and care.

Chromosome Aberrations↗
PubMed2000

Triple marker screening for trisomy 21, trisomy 18 and open neural tube defects in singleton pregnancies of native Japanese pregnant women.

OBJECTIVE: To report the results of prenatal triple marker screening on a population of Japanese pregnant women. METHODS: From April 1994 through March 1999, a total of 32,925 native Japanese women with singleton pregnancies requested a triple marker-screening test. Multiples of the median values for 3 markers and individual risks for each patient were calculated following adjustment for the Japanese weight correction factor. The risk cut-off values used for Down syndrome (T21), open spina bifida (OSB) and trisomy 18 (T18) were 1: 295, 1: 290, and 1: 100, respectively. Follow-up information was collected postpartum and statistically analyzed. RESULTS: Detection rates (DR) of T21 for women less than 35 years, over 35 years and overall were 58, 94, and 83%, respectively. DR of T18 for women less than 35 years, over 35 years and overall were 75, 79, and 79%, respectively. DR of open neural tube defects (ONTD) was 100%. CONCLUSIONS: The first cumulative data of an intervention program and prospective follow-up studies in Japan have proven to be similar to other published reports. Individual risk values were calculated for each pregnancy for T21, T18 and ONTD. This screening program is more effective than age-dependent screening for detecting T21, T18 and ONTD pregnancies.

Adult↗
PubMed2001

Trisomy 17 in a bonobo (Pan paniscus) and deletion of 3q in a lowland gorilla (Gorilla gorilla gorilla): comparison with human trisomy 18 and human deletion 4q syndrome.

A female bonobo (Pan paniscus) born at the San Diego Zoo exhibited inability to nurse and progressive weakness plus multiple congenital abnormalities including aural canal atresia and stenosis, malformed auricles, clenched hands, lordosis, agenesis of the caudal vertebra and cardiac abnormalities. Chromosome analysis identified the bonobo as being trisomic for chromosome 17, the homolog of human chromosome 18. Genotyping with human microsatellites suggested the extra chromosome was maternal in origin. In addition, a male lowland gorilla (Gorilla gorilla gorilla), also born at the zoo, exhibited postnatal growth retardation, facial dysmorphisms and small hands with short fingers. Karyotype analysis revealed the gorilla carried a deletion of the distal q arm of chromosome 3, the homolog of human chromosome 4. The phenotypic and karyotypic abnormalities found in the bonobo and gorilla were consistent with the characteristics of human trisomy 18 and human deletion 4q syndrome, respectively.

Animals↗
PubMed1992

An unusual combination of trisomy 21 and partial trisomy 5q.

The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of olfactory bulbs, and presence of small round cells simulating migration defect in the cerebellar white matter. Cytogenetic study demonstrated a chromosomal constitution of 47,XY, +21, +5q. Its pathological significance compared with Down's syndrome and hitherto reported partial trisomy 5q is discussed.

Abnormalities, Multiple↗
PubMed1975

[Partial trisomy 14q II.--Partial trisomy 14q due to a maternal t(12; 14) (q24.4; q21)].

The phenotype of an 18-month-old male infant trisomic for the proximal portion of the long arm of chromosome 14 was reported and compared with that of previously reported cases. For the identification of the resulting syndrome, the most consistent features are psychomotor and growth retardation, and an oval, dysmorphic facies which includes a distinctive form of the mouth and a prominent nose. The trisomy in the child reported here is due to a familial translocation transmitted by the mother and present in at least three generations: t(12;14)(q24.4;q21). The 12q duplication in the child's genome is minimal and does not seem to have contributed to his phenotype.

Abnormalities, Multiple↗