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11/49. Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.

    Monozygotic twin brothers are described who share clinical features which include: moderate mental retardation, short stature, macrocephaly, frontal bossing, ptosis, low-set ears, brachydactyly, 5th fingers clinodactyly, single palmar creases, cryptorchidism, and prelingual sensorineural deafness. One of the twins presented with mild cardiac dilatation and died at age 3(1/2) from cardiac arrest during an episode of acute respiratory infection. While chromosome analyses performed for both twins on peripheral blood showed apparently normal karyotypes, screening for all telomeric regions on the surviving propositus revealed a combination of partial 6p trisomy and partial 11q monosomy. A balanced reciprocal translocation was found in the father. The phenotype of the twins is most likely related to this cryptic chromosomal rearrangement. The fact that the phenotype in this family partially overlaps with some previously reported phenotypes is discussed.
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ranking = 1
keywords = trisomy
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12/49. A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review.

    A rec(4) dup 4p inherited from a maternal inv(4)(p15q35) was detected in a four-year-old girl with malformations, developmental delay, and behavioral problems that resemble those for trisomy 4p. A review of eight other liveborns with rec(4) dup 4p shows that about 40% of them also have manifestations in common with trisomy 4p, but the rest have a variable spectrum of malformations. overall, the rec(4) dup 4p phenotype is not specific, and a diagnosis would not have been feasible without cytogenetic studies. This lack of a clinically recognizable phenotype could reflect the effects of the variable sizes of deletions of 4q, molecular differences in the break points, or the known variable expression of trisomy 4p. The fact that 79% of the recombinants in the offspring of inv(4)(p13-p15q35) carriers are rec(4) dup 4p suggests that meiotic recombination favors its generation or that rec(4) dup 4q are more lethal in utero.
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ranking = 3
keywords = trisomy
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13/49. Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic forms.

    The phenotypes of a mother and child with a duplication of 7p15-7p22 are described. The mother is mosaic for the cytogenetic abnormality, whereas all cells are affected in her son. Fewer than 5 patients with interstitial 7p duplications are described in the world literature whereas over 30 phenotypic descriptions of individuals with terminal 7p duplication can be found. Authors have suggested that the associated phenotype amounts to a recognizable syndrome. The current cases give further insights into the phenotype that results from pure 7p duplication, both in its mosaic and in its full form. Comparisons are made with previous cases, in the light of the shorter segment involved in the current patients, whose duplication does not extend to pter. This case description will be useful in counseling patients with duplications of 7p and lends support to the existence of characteristic craniofacial features and congenital malformations in this chromosome rearrangement. In addition, as earlier case reports all describe the phenotype associated with non-mosaic partial 7p trisomy, the current observations amount to clear evidence that mosaicism attenuates the phenotype of this rearrangement.
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ranking = 1
keywords = trisomy
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14/49. fertility in a female with mosaic trisomy 8.

    OBJECTIVE: To describe the first term pregnancy in a patient with the characteristic features of trisomy 8 mosaicism. DESIGN: Case report. SETTING: University department. PATIENT(S): The 23-year-old proband had a history of cleft palate, mixed bilateral hearing loss, short stature, and developmental delay. She had dysmorphic craniofacial features, mild musculoskeletal abnormalities, and abnormal skin pigmentation. Her karyotype was mos47,XX, 8[17]/46,XX[83]. INTERVENTION(S): cytogenetic analysis and genetics evaluation of the proband and her child. MAIN OUTCOME MEASURE(S): The first successful pregnancy in a phenotypically abnormal trisomy 8 patient. RESULT(S): The pregnancy was largely uncomplicated except for an abnormal triple screen, with subsequent normal amniocentesis, and a fetal ultrasound revealing a clubfoot anomaly. cytogenetic analysis of the child showed a 46,XX karyotype. CONCLUSION(S): Our review indicates that reproduction in females with mosaic trisomy 8 is possible, albeit uncommon. Until additional cases are reported and any specific risks identified, prenatal diagnosis of any pregnancies in mosaic trisomy 8 patients would seem prudent. In addition, this and previous cases illustrate the need to effectively counsel families of mosaic trisomy 8 children about the possibility of reproduction.
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ranking = 9
keywords = trisomy
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15/49. Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p.

    We report on a 12-year-old boy with a supernumerary chromosome der(21)t(7; 21)(p21; q21.3)mat, resulting in a partial trisomy 21 and a partial trisomy 7p. The patient has a severe psychomotor retardation. Although he has most of chromosome 21 in three copies, he does not have a phenotype of down syndrome (DS). In addition to cytogenetic analysis, molecular analysis confirmed that the "DS critical region" on chromosome 21 (21q22) is not present in three copies, since the breakpoint of the partial trisomy 21 was found to be located distal to the marker locus D21S145 but proximal to D21S226. The patient's severe mental retardation is probably due to the small telomeric 7p trisomy, having the breakpoint between markers D7S507 and D7S488. In comparison with previously published cases of partial trisomy 7p, the phenotype of this patient indicates that there is a region around the distal part of band 7p21 that in three copies might contribute to many of the facial features common to patients with partial trisomy 7p.
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ranking = 64.734623441049
keywords = partial trisomy, trisomy
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16/49. 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.
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ranking = 26.513316708096
keywords = partial trisomy, trisomy
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17/49. A case of partial trisomy 13 presenting with hyperinsulinaemic hypoglycaemia.

    We report on a newborn baby with partial trisomy 13 who presented with multiple dysmorphic features and hyperinsulinaemic hypoglycaemia. Cytogenetic study on peripheral blood lymphocytes showed 47,XY, mar in all cells analysed; fluorescent in situ hybridisation showed that the marker was solely derived from chromosome 13. The final karyotype was 47,XY, del(13)(q14q32). milk formula through a nasogastric drip and intravenous glucose infusion were given to prevent further hypoglycaemia. However, the baby developed occasional episodes of hypoglycaemia during bolus feeding. Hence, diazoxide was given, at a dosage of 10 mg/kg per day from day 24. Thereafter, no hypoglycaemic episodes were detected. Subsequent follow-up revealed satisfactory growth, global developmental delay, and left divergent squint.
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ranking = 24.513316708096
keywords = partial trisomy, trisomy
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18/49. A female infant with duplication of chromosome 2q33 to 2q37.3.

    We report a 13-month-old female child with a de-novo inverted duplication of chromosome 2q extending from 2q33 to 2q37.3. She had microcephaly and craniofacial dysmorphism compatible with previously reported cases with overlapping duplications of chromosome 2q. Although a facial phenotype for pure partial trisomy 2q3 has been described, some controversy still exists regarding possible band specificity for the facial findings. We consider this child provides further evidence for a recognizable facial appearance associated with duplication of chromosome band 2q33 to 2q37.3. Other clinical features found with duplication for chromosome 2q3 have been variable and we provide a summary of the findings in previously reported cases.
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ranking = 4.9026633416192
keywords = partial trisomy, trisomy
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19/49. Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.

    Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-limited mosaicism for a supernumary 12p isochromosome (i12p). Here we report an unusual case with tetrasomy/trisomy/disomy 12p mosaic in fibroblasts and trisomy/disomy 12p mosaic in lymphocytes. The tetrasomy 12p was due to an i12p, the trisomy 12p to a single 12p marker. Both marker chromosomes were investigated with conventional cytogenetic techniques and fluorescent in situ hybridization (FISH). Stability under culturing conditions was studied. dna-analysis revealed prezygotic maternal origin of the extra 12p material. Clinically, the patient seems to have less retardation than most patients with Pallister-Killian syndrome.
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ranking = 3
keywords = trisomy
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20/49. Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies.

    uniparental disomy for a number of human chromosomes is associated with clinical abnormalities. We report a child with a complex chromosomal rearrangement involving chromosome 20 (45,XY,psu dic (20;20)(p13;p13)) and paternal uniparental isodisomy for chromosome 20 in peripheral blood and bone marrow. This patient had multiple congenital abnormalities including microtia/anotia, micrencephaly, congenital heart disease, neuronal subependymal heterotopias, and colonic agangliosis. Molecular studies on dna from peripheral blood demonstrated paternal uniparental inheritance of chromosome 20. However, fibroblasts demonstrated a mosaic karyotype, with one cell line having 45 chromosomes, including the pseudodicentric chromosome 20 (75% of cells), and a second cell line having 46 chromosomes, including the pseudodicentric chromosome 20, and a normal chromosome 20 (trisomy 20) (25% of cells). FISH experiments using a sub-telomeric probe that maps approximately 120 kb from the 20p telomere, showed that both copies of these sequences were present on the rearranged chromosome, consistent with deletion of a very small interval. This leads us to suggest that in addition to trisomy 20 mosaicism, paternal uniparental disomy for chromosome 20 could contribute to his clinical phenotype.
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ranking = 2
keywords = trisomy
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