Cases reported "Abnormalities, Multiple"

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1/15. Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.

    We describe a 1-year-old boy with mental and physical retardation, a large anterior fontanel, brachycephaly with flat occiput, short and stubby fingers, generalized hypotonia, ocular hypertelorism, low-nasal bridge, long philtrum, high-narrow palate, apparently low-set ears, and a small mandible. cytogenetic analysis utilizing high resolution chromosome banding technique showed an unbalanced karyotype consisting of 46,XY,add(21)(q22.3) that originated from maternal balanced translocation between chromosomes 7 and 21. fluorescence in situ hybridization (FISH) using micro-dissected library probe pool from chromosome 7 confirmed the additional material on 21q was derived from chromosome 7. Our results indicated that the patient had an unbalanced translocation, 46,XY, der(21)t(7;21)(p21.2;q22.3)mat, which resulted in duplication for distal 7p. Our patient is similar to reported cases with a 7p15-->pter or larger duplication of 7p, suggesting that the critical segment causing the characteristic phenotype of 7p duplication syndrome, including large anterior fontanel, exists at 7p21.2 or 7p21.2-->pter.
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2/15. Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?

    A 4-year-old boy with left cleft lip and cleft palate, multiple minor anomalies and developmental delay revealed an abnormal chromosome 2 with enlarged proximal long arm, de novo, in his karyotype. fluorescence in situ hybridization with a chromosome 2 library and band-specific YACs confined the duplicated segment to 2q11.1-q13.2 and indicated a direct tandem duplication due to unbalanced crossover between chromatids.
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3/15. A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.

    Fifteen patients presenting with mosaic or non-mosaic karyotypes containing a distamycin-DAPI negative de novo or familial supernumerary marker chromosome were studied with non-isotopic in situ hybridisation using a library of alphoid centromere specific and satellite II/III probes. The in situ hybridisation studies showed that seven markers were derived from satellited autosomes (three chromosome 13/21, two chromosome 14, two chromosome 22), six from non-satellited autosomes (two chromosome 4, one chromosome 12, one chromosome 16, two chromosome 19), and one from the y chromosome. One non-mosaic marker was negative for all the alphoid and satellite II/III probes used.
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4/15. Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.

    We report on two patients with Pallister-Killian syndrome: an 18 month old male infant followed since the neonatal period and a 4 year old boy. prenatal diagnosis by chorionic villi sampling (CVS) in the first case showed a normal karyotype without mosaicism. Chromosome analysis on peripheral lymphocytes of the newborn also showed a normal karyotype. The clinical diagnosis of Pallister-Killian syndrome was made after the first year of life because of the typical facial dysmorphism and other characteristic clinical features, such as frontotemporal alopecia, depigmented area of the skin, sensorineural hearing loss, and severe psychomotor retardation. Chromosome analysis from skin fibroblasts now showed an isochromosome 12p mosaicism. The origin of the extra chromosome was confirmed by in situ hybridisation using a chromosome 12 specific library. In the second case chromosomal analysis from peripheral lymphocytes at the age of 19 months showed a normal karyotype 46,XY. Following the clinical diagnosis of Pallister-Killian syndrome a superficial skin biopsy was performed which showed very poor and slow growth of cells and a normal karyotype. Because of the typical symptoms a larger and deeper skin biopsy was performed from which there was rapid growth of fibroblasts. Now the diagnosis was established on the basis of the presence of an i(12p) extra chromosome in 69% of the metaphases.
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5/15. Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier.

    We currently use direct and reverse chromosome painting in prenatal diagnosis. In a family with a subtle 12;16 translocation, adjacent 1 segregation was diagnosed in the first child, a boy, in whom symptoms compatible with partial trisomy 16p and partial monosomy 12q were seen. In the next pregnancy, a chorionic villus biopsy was tested using chromosome painting. Only by supplementing conventional cytogenetic methods with molecular cytogenetic techniques could the true karyotype be unequivocally determined. Reverse painting, using DOP-PCR amplified, flow sorted paternal derivative chromosomes as a DNA library to paint the chorionic villus cells, was especially informative.
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6/15. Clinical and molecular analysis of five inv dup(15) patients.

    Five patients with inv dup(15) chromosomes were investigated with molecular probes on proximal 15q to determine the parental origin and extent of the duplicated segment. Cytogenetic investigation showed that four patients carried one and a fifth patient had two extra chromosomes derived from number 15 in all cells. in situ hybridization with a chromosome 15 library and a centromere 15 probe confirmed that the entire inv dup chromosomes were derived from chromosome 15. Molecular analysis using probes mapping in the region deleted in prader-willi syndrome (PWS) and angelman syndrome (AS) patients implied that in at least two patients the extra chromosomes were asymmetric with one copy of the PWS region on the extra marker chromosome but two copies of the region centromeric to the PWS region. Three other cases had an inv dup(15) with two extra copies of the PWS region, but in one of these, heteromorphisms clearly demonstrated that the two centromeres derived from two different chromosomes. The inv dup(15) presumably resulted from an illegitimate recombination event between two different chromosomes 15 in most or all of these cases. All patients showed a maternal origin of the duplicated chromosome. The clinical severity appears to be associated with dosage of the PWS/AS region rather than with differences in the extent of the duplicated segment.
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7/15. Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

    In an effort to identify regions on chromosome 18 that may be critical in the appearance of the Edwards syndrome phenotype, we have analyzed six patients with partial duplication of chromosome 18. Four of the patients have duplications involving the distal half of 18q (18q21.1-qter) and are very mildly affected. The remaining two patients have most of 18q (18q12.1-qter) duplicated, are severely affected, and have been diagnosed with Edwards syndrome. We have employed FISH, using dna probes from a chromosome 18-specific library, for the precise determination of the duplicated material in each of these patients. The clinical features and the extent of the chromosomal duplication in these patients were compared with four previously reported partial trisomy 18 patients, to identify regions of chromosome 18 that may be responsible for certain clinical features of trisomy 18. The comparative analysis confirmed that there is no single region on 18q that is sufficient to produce the trisomy 18 phenotype and identified two regions on 18q that may work in conjunction to produce the Edwards syndrome phenotype. In addition, correlative analysis indicates that duplication of 18q12.3-q22.1 may be associated with more severe mental retardation in trisomy 18 individuals.
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8/15. prenatal diagnosis of partial trisomy 1q using fluorescent in situ hybridization.

    We report the use of fluorescent in situ hybridization (FISH) with a DNA library of chromosome 1-specific probes to confirm the karyotype, 46,XY,15 der15,t(1;15)(q32.1; q26.3), obtained by prenatal periumbilical blood sampling from a fetus who exhibited multiple abnormalities by ultrasound examination. GTG-banding of chromosomes obtained from the mother showed a normal karyotype, while the father was unavailable for study. The propositus was born at 37 weeks gestation and survived for several weeks. cytogenetic analysis performed after the birth of the male infant with multiple anomalies verified partial trisomy 1q. This patient is compared with other partial trisomy 1q patients reported in the literature. The usefulness of FISH is demonstrated in situations where fetal abnormalities are present with de novo chromosomal rearrangements where paternal chromosomes are unavailable for study.
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9/15. chromosome painting using FISH (fluorescence in situ hybridization) with chromosome-6-specific library demonstrates the origin of a de novo 6q marker chromosome.

    We report the application of chromosome painting using FISH (fluorescence) in situ hybridization) to demonstrate the origin of a de novo 6q marker chromosome. A girl with a mental retardation/multiple malformation syndrome was shown to have the karyotype 46,XX, 6q . Banding analysis could not determine the origin of the extra chromosomal material. Using FISH with a chromosome-6-specific library we showed that the marker chromosome was completely painted, indicating an origin from chromosome 6. The child's phenotype was compared with previously reported cases with partial chromosome 6 trisomy. A clinically recognized syndrome emerged, although she apparently also demonstrated novel features.
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10/15. Duplication 9q34-->qter identified by chromosome painting.

    We have studied an infant with multiple anomalies and a 46,XY,12p karyotype. Parental chromosomes were normal, and it was not possible to determine the identity of the extra material on chromosome 12 cytogenetically. chromosome painting with probes from a chromosome 9 library identified this material as coming from chromosome 9, and cytogenetics established the duplication as 9q34-->qter. Comparison of this patient with others reported with partial dup(9q) documented excellent concordance of minor anomalies, most notably dolichocephaly, "deep-set" eyes, short horizontal palpebral fissures, beaked nose, micrognathia, arachnodactyly, and developmental delay. Identification of cytogenetically indeterminate abnormalities by molecular cytogenetics is very important, as it permits prognosis to be offered for families of newborn infants with unbalanced karyotypes.
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