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1. Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

Author

Bonaglia, M, Salvo, E, Sironi, M, Bertuzzo, S, Errichiello, E, Mattina, T, Zuffardi, O, Bonaglia MC, Salvo E, Sironi M, Bertuzzo S, Errichiello E, Mattina T, Zuffardi O, Bonaglia, M, Salvo, E, Sironi, M, Bertuzzo, S, Errichiello, E, Mattina, T, Zuffardi, O, Bonaglia MC, Salvo E, Sironi M, Bertuzzo S, Errichiello E, Mattina T, and Zuffardi O

Abstract

Optical genome mapping (OGM), which allows analysis of ultra-high molecular weight (UHMW) DNA molecules, represents a response to the restriction created by short-read next-generation-sequencing, even in cases where the causative variant is a neutral copy-number-variant insensitive to quantitative investigations. This study aimed to provide a molecular diagnosis to a boy with Marfan syndrome (MFS) and intellectual disability (ID) carrying a de novo translocation involving chromosomes 3, 4, and 13 and a 1.7 Mb deletion at the breakpoint of chromosome 3. No FBN1 alteration explaining his Marfan phenotype was highlighted. UHMW gDNA was isolated from both the patient and his parents and processed using OGM. Genome assembly was followed by variant calling and annotation. Multiple strategies confirmed the results. The 3p deletion, which disrupted ROBO2, (MIM*602431) included three copy-neutral insertions. Two came from chromosome 13; the third contained 15q21.1, including the FBN1 from intron-45 onwards, thus explaining the MFS phenotype. We could not attribute the ID to a specific gene variant nor to the reshuffling of topologically associating domains (TADs). Our patient did not have vesicular reflux-2, as reported by missense alterations of ROBO2 (VUR2, MIM#610878), implying that reduced expression of all or some isoforms has a different effect than some of the point mutations. Indeed, the ROBO2 expression pattern and its role as an axon-guide suggests that its partial deletion is responsible for the patient’s neurological phenotype. Conclusion: OGM testing 1) highlights copy-neutral variants that could remain invisible if no loss of heterozygosity is observed and 2) is mandatory before other molecular studies in the presence of any chromosomal rearrangement for an accurate genotype-phenotype relationship.

Published
2023

5. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Author

Hagleitner, M M, Lankester, A, Maraschio, P, Hultén, M, Fryns, J P, Schuetz, C, Gimelli, G, Davies, E G, Gennery, A, Belohradsky, B H, de Groot, R, Gerritsen, E J A, Mattina, T, Howard, P J, Fasth, A, Reisli, I, Furthner, D, Slatter, M A, Cant, A J, Cazzola, G, van Dijken, P J, van Deuren, M, de Greef, J C, van der Maarel, S M, and Weemaes, C M R

Published
2008
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6. Bone islands

Author

Gaudio, A, Rapisarda, R, Xourafa, A, Gorgone, C, Mattina, T, and Castellino, P.

Published
2019

8. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Author

De Gregori, M, Ciccone, R, Magini, P, Pramparo, T, Gimelli, S, Messa, J, Novara, F, Vetro, A, Rossi, E, Maraschio, P, Bonaglia, M C, Anichini, C, Ferrero, G B, Silengo, M, Fazzi, E, Zatterale, A, Fischetto, R, Previderé, C, Belli, S, Turci, A, Calabrese, G, Bernardi, F, Meneghelli, E, Riegel, M, Rocchi, M, Guerneri, S, Lalatta, F, Zelante, L, Romano, C, Fichera, Ma, Mattina, T, Arrigo, G, Zollino, M, Giglio, S, Lonardo, F, Bonfante, A, Ferlini, A, Cifuentes, F, Van Esch, H, Backx, L, Schinzel, A, Vermeesch, J R, and Zuffardi, O

Published
2007

10. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Author

Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, JA, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, SW, Pazuchanics, D, Huber, E, Kumar, V, Kember, RL, Mari, F, Curro, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandara, L, Vincent, M, Nizon, M, Mercier, S, Beneteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A-L, Caberg, J-H, Bucan, M, Zeesman, S, Nowaczyk, MJM, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, RF, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, DJ, Andrieux, J, Girirajan, S, Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, JA, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, SW, Pazuchanics, D, Huber, E, Kumar, V, Kember, RL, Mari, F, Curro, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandara, L, Vincent, M, Nizon, M, Mercier, S, Beneteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A-L, Caberg, J-H, Bucan, M, Zeesman, S, Nowaczyk, MJM, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, RF, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, DJ, Andrieux, J, and Girirajan, S

Abstract

PURPOSE: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. METHODS: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. RESULTS: The number of rare likely deleterious variants in functionally intolerant genes ("other hits") correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with their carrier family members. Probands with 16p12.1 deletion and a strong family history presented more severe clinical features (p=0.04) and higher burden of other hits compared with those with mild/no family history (p=0.001). The number of other hits also correlated with severity of cognitive impairment in probands carrying pathogenic CNVs (n=53) or de novo pathogenic variants in disease genes (n=290), and negatively correlated with head size among 80 probands with 16p11.2 deletion. These co-occurring hits involved known disease-associated genes such as SETD5, AUTS2, and NRXN1, and were enriched for cellular and developmental processes. CONCLUSION: Accurate genetic diagnosis of complex disorders will require complete evaluation of the genetic background even after a candidate disease-associated variant is identified.

Published
2019

11. Association of a chromosome deletion syndrome with the fragile site within the proto-oncogene CBL2

Author

Jones, C., Penny, L., Mattina, T., Yu, S., Baker, E., Voullaire, L., Langdon, W.Y., Sutherland, G.R., Richards, R.I., and Tunnacliffe, A.

Subjects
Chromosome deletion -- Causes of, Proto-oncogenes -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

The human proto-oncogene CBL2 has a p(CCG)n repeat that is found near the folate-sensitive fragile site FRA11B. In most of the chromosomes which do not express FRA11B,the p(CCG)n repeat length (n) is eleven. When p(CCG)n repeat near the fragile site expands past certain limits, the CpG island near FRA11B is methylated. The breakpoint of the deletion in chromosome 11 in two out of five Jacobsen syndrome patients is in the region which contains FRA11B. Thus, there is an association between the expansion of the p(CCG)n repeat length in the presence of the fragile site and chromosome truncation in Jacobsen syndrome.

Published
1995

14. Antley-Bixler syndrome

Author

Mattina, T., Pierluigi, M., Perfumo, C., Mazzone, D., Scardilli, S., and Mollica, F.

Published
1996

16. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Author

Koolen, D.A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H.E., Conta, J.H., Fortuna, A.M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O.A., Winesett, H.M., Chung, W.K., Dalton, M., Dimova, P.S., Mattina, T., Prescott, K., Zhang, H.Z., Saal, H.M., Hehir-Kwa, J.Y., Willemsen, M.H., Ockeloen, C.W., Jongmans, M.C., Aa, N. van der, Failla, P., Barone, C., Avola, E., Brooks, A.S., Kant, S.G., Gerkes, E.H., Firth, H.V., Ounap, K., Bird, L.M., Masser-Frye, D., Friedman, J.R., Sokunbi, M.A., Dixit, A., Splitt, M., Kukolich, M.K., McGaughran, J., Coe, B.P., Florez, J., Kasri, N.N., Brunner, H.G., Thompson, E.M., Gecz, J., Romano, C., Eichler, E.E., Vries, B.B.A. de, DDD Study, Clinical Genetics, Klinische Genetica, MUMC+: DA Klinische Genetica (5), Genetica & Celbiologie, RS: FHML non-thematic output, RS: GROW - School for Oncology and Reproduction, RS: GROW - R4 - Reproductive and Perinatal Medicine, and DDD Study

Subjects
0301 basic medicine, Male, Congenital, Epilepsy, Intellectual disability, MAPT, 2.1 Biological and endogenous factors, Koolen-de Vries syndrome, KANSL1, phenotype, Genetics(clinical), Copy-number variation, Aetiology, Non-U.S. Gov't, Child, Genetics (clinical), Pediatric, Genetics & Heredity, Genetics, COMMON INVERSION, DEVELOPMENTAL DELAY, Research Support, Non-U.S. Gov't, Nuclear Proteins, Single Nucleotide, Microdeletion syndrome, Middle Aged, Hypotonia, Chemistry, DROSOPHILA, Phenotype, Female, Abnormalities, medicine.symptom, Chromosome Deletion, Haploinsufficiency, Multiple, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, Adolescent, Koolen De Vries syndrome, INVERSION POLYMORPHISM, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Copy number analysis, COPY-NUMBER VARIATION, Biology, Research Support, Polymorphism, Single Nucleotide, Chromosomes, Article, 03 medical and health sciences, Rare Diseases, Clinical Research, Intellectual Disability, Journal Article, medicine, Humans, Abnormalities, Multiple, Polymorphism, DDD Study, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], COMPLEX, MUTATIONS, Pair 17, DISABILITY, Neurosciences, medicine.disease, Brain Disorders, DELINEATION, 030104 developmental biology, Congenital Structural Anomalies, Human medicine, Chromosomes, Human, Pair 17
Abstract

Contains fulltext : 168191.pdf (Publisher’s version ) (Open Access) The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. The syndrome is caused by a truncating variant in the KAT8 regulatory NSL complex unit 1 (KANSL1) gene or by a 17q21.31 microdeletion encompassing KANSL1. Herein we describe a novel cohort of 45 individuals with KdVS of whom 33 have a 17q21.31 microdeletion and 12 a single-nucleotide variant (SNV) in KANSL1 (19 males, 26 females; age range 7 months to 50 years). We provide guidance about the potential pitfalls in the laboratory testing and emphasise the challenges of KANSL1 variant calling and DNA copy number analysis in the complex 17q21.31 region. Moreover, we present detailed phenotypic information, including neuropsychological features, that contribute to the broad phenotypic spectrum of the syndrome. Comparison of the phenotype of both the microdeletion and SNV patients does not show differences of clinical importance, stressing that haploinsufficiency of KANSL1 is sufficient to cause the full KdVS phenotype.

Published
2016

20. A new cause of ambiguous genitalia: multiple malformation syndrome related to an unbalanced translocation [46,XY t(7;16)]

Author

Pavone, L., Pira, A. Le, Caruso, M., Pavone, P., Palumbo, O., Carella, M., and Mattina, T.

Subjects
Sex chromosome abnormalities -- Diagnosis, Sex chromosomes -- Properties, Birth defects -- Diagnosis, Health
Abstract

We report the case of a three years old male child who showed ambiguous genitalia in a setting of multiple malformations. Disorders of sex development (DSD) are due to many different causes, such as chromosome abnormalities, or alterations in transcription factors, receptors, and hormones implicated in sexual differentiation during fetal life. Here we describe a case of partial deletion 7q ter associated with partial trisomy 16p as a new chromosome anomaly associated with ambiguous genitalia. We have attempted to analyse the individual contributions of chromosomes 7 and 16 in the pathogenesis of the sex malformation in our patient. Keywords: ambiguous genitalia | chromosome 7 | chromosome 16 | unbalanced translocation., Introduction There are many causes of ambiguous genitalia, recently renamed 'disorders of sex development' (DSD). This generic definition includes any congenital condition in which the development of chromosomal, gonadal, and [...]

Published
2010

21. A new cause of ambiguous genitalia: multiple malformation Syndrome related to an unbalanced translocation [46,xy t(7;16)]

Author

Pavone, L., Caruso, M., Le Pira, A., Pavone, P., Palumbo, O., Carella, M., and Mattina, T.

Subjects
Hermaphroditism -- Genetic aspects, Health
Abstract

We report the case of a three years old male child who showed ambiguous genitalia in a setting of multiple malformations. Disorders of sex development (DSD) are due to many different causes, such as chromosome abnormalities, or alterations in transcription factors, receptors, and hormones implicated in sexual differentiation during fetal life. Here we describe a case of partial deletion 7q ter associated with partial trisomy 16p as a new chromosome anomaly associated with ambiguous genitalia. We have attempted to analyse the individual contributions of chromosomes 7 and 16 in the pathogenesis of the sex malformation in our patient. Keywords: ambiguous genitalia | chromosome 7 | chromosome 16 | unbalanced translocation, Introduction There are many causes of ambiguous genitalia, recently renamed 'disorders of sex development' (DSD). This generic definition includes any congenital condition in which the development of chromosomal, gonadal, and [...]

Published
2009

25. Cryptic deletions are a common finding in 'balanced' reciprocal and complex chromosome rearrangements: a study of 59 cases

Author

DE GREGORI, M, Ciccone, R, Magini, P, Pramparo, T, Gimelli, S, Messa, J, Novara, F, Vetro, A, Rossi, E, Maraschio, P, Bonaglia, Mc, Anichini, C, Ferrero, Gb, Silengo, M, Fazzi, E, Zatterale, A, Fischetto, R, Previdere, C, Belli, S, Turci, A, Calabrese, G, Bernardi, F, Meneghelli, E, Riegel, M, Rocchi, M, Guerneri, S, Lalatta, F, Zelante, L, Romano, C, Fichera, M, Mattina, T, Arrigo, G, Zollino, M, Giglio, S, Lonardo, F, Bonfante, A, Ferlini, Alessandra, Cifuentes, F, VAN ESCH, H, Backx, L, Schinzel, A, Vermeesch, Jr, and Zuffardi, O.

Subjects
Duchenne muscular dystrophy, double-strand break, short tandem repeat, flurorescence in situ hybridisation, STR, CCR, complex chromosome rearrangement, DSB, PATRR, aplindromic AT-rich repeat, comparative genome hybridisation, FISH, BAC, bacterial artificial chromosome, CGH, DMD
Published
2007

30. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

Author

Hagleitner, M.M., Lankester, A., Maraschio, P., Hulten, M., Fryns, J.P., Schuetz, C., Gimelli, G., Davies, E.G., Gennery, A.R., Belohradsky, B.H., Groot, R. de, Gerritsen, E.J., Mattina, T., Howard, P.J., Fasth, A., Reisli, I., Furthner, D., Slatter, M.A., Cant, A.J., Cazzola, G., Dijken, P.J. van, Deuren, M. van, Greef, J.C. de, Maarel, S.M. van der, Weemaes, C.M.R., Hagleitner, M.M., Lankester, A., Maraschio, P., Hulten, M., Fryns, J.P., Schuetz, C., Gimelli, G., Davies, E.G., Gennery, A.R., Belohradsky, B.H., Groot, R. de, Gerritsen, E.J., Mattina, T., Howard, P.J., Fasth, A., Reisli, I., Furthner, D., Slatter, M.A., Cant, A.J., Cazzola, G., Dijken, P.J. van, Deuren, M. van, Greef, J.C. de, Maarel, S.M. van der, and Weemaes, C.M.R.

Abstract

Contains fulltext : 69091.pdf (publisher's version ) (Closed access), BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients which is explained by mutations in the DNA methyltransferase gene DNMT3B in some, but not all, ICF patients. OBJECTIVE: To obtain a comprehensive description of the clinical features of this syndrome as well as genotype-phenotype correlations in ICF patients. METHODS: Data on ICF patients were obtained by literature search and additional information by means of questionnaires to corresponding authors. Results and CONCLUSIONS: 45 patients all with proven centromeric instability were included in this study. Facial dysmorphism was found to be a common characteristic (n = 41/42), especially epicanthic folds, hypertelorism, flat nasal bridge and low set ears. Hypo- or agammaglobulinaemia was demonstrated in nearly all patients (n = 39/44). Opportunistic infections were seen in several patients, pointing to a T cell dysfunction. Haematological malignancy was documented in two patients. Life expectancy of ICF patients is poor, especially those with severe infections in infancy or chronic gastrointestinal problems and failure to thrive. Early diagnosis of ICF is important since early introduction of immunoglobulin supplementation can improve the course of the disease. Allogeneic stem cell transplantation should be considered as a therapeutic option in patients with severe infections or failure to thrive. Only 19 of 34 patients showed mutations in DNMT3B, suggesting genetic heterogeneity. No genotype-phenotype correlation was found between patients with and without DNMT3B mutations.

Published
2008

34. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

Author

Coldren, C. D., primary, Lai, Z., additional, Shragg, P., additional, Rossi, E., additional, Glidewell, S. C., additional, Zuffardi, O., additional, Mattina, T., additional, Ivy, D. D., additional, Curfs, L. M., additional, Mattson, S. N., additional, Riley, E. P., additional, Treier, M., additional, and Grossfeld, P. D., additional

Published
2008
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35. Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

Author

Rossi, E, primary, Riegel, M, additional, Messa, J, additional, Gimelli, S, additional, Maraschio, P, additional, Ciccone, R, additional, Stroppi, M, additional, Riva, P, additional, Perrotta, C S, additional, Mattina, T, additional, Memo, L, additional, Baumer, A, additional, Kucinskas, V, additional, Castellan, C, additional, Schinzel, A, additional, and Zuffardi, O, additional

Published
2007
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36. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Author

Hagleitner, M M, primary, Lankester, A, additional, Maraschio, P, additional, Hulten, M, additional, Fryns, J P, additional, Schuetz, C, additional, Gimelli, G, additional, Davies, E G, additional, Gennery, A, additional, Belohradsky, B H, additional, de Groot, R, additional, Gerritsen, E J A, additional, Mattina, T, additional, Howard, P J, additional, Fasth, A, additional, Reisli, I, additional, Furthner, D, additional, Slatter, M A, additional, Cant, A J, additional, Cazzola, G, additional, van Dijken, P J, additional, van Deuren, M, additional, de Greef, J C, additional, van der Maarel, S M, additional, and Weemaes, C M R, additional

Published
2007
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37. 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

Author

Ballarati, L., primary, Rossi, E., additional, Bonati, M. T., additional, Gimelli, S., additional, Maraschio, P., additional, Finelli, P., additional, Giglio, S., additional, Lapi, E., additional, Bedeschi, M. F., additional, Guerneri, S., additional, Arrigo, G., additional, Patricelli, M. G., additional, Mattina, T., additional, Guzzardi, O., additional, Pecile, V., additional, Police, A., additional, Scarano, G., additional, Larizza, L., additional, Zuffardi, O., additional, and Giardino, D., additional

Published
2006
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40. Nine novel APC mutations in Italian FAP patients

Author

Resta, N., primary, Stella, A., additional, Susca, F., additional, Montera, M., additional, Gentile, M., additional, Cariola, F., additional, Prete, F., additional, Tenconi, R., additional, Tibiletti, M.G., additional, Logrieco, G., additional, Mattina, T., additional, Andriulli, G., additional, Caruso, M.L., additional, Fiorente, P., additional, Russo, S., additional, Caputi-Jambrenghi, O., additional, Mareni, C., additional, and Guanti, G., additional

Published
2001
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42. Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998

Author

Gaudray, P., primary, Carle, G.F., additional, Gerhard, D.S., additional, Gessler, M., additional, Mannens, M.M., additional, Athanasiou, M., additional, Bliek, J., additional, Calender, A., additional, Debelenko, L.V., additional, Devignes, M.-D., additional, Evans, G.A., additional, Favier, R., additional, Forbes, S., additional, Gaudray, G., additional, Gawin, B., additional, Gordon, M., additional, Grimmond, S., additional, Grossfeld, P., additional, Harris, J., additional, Hattori, M., additional, Hosoda, F., additional, Hummerich, H., additional, James, M., additional, Kalla, J., additional, Katsanis, N., additional, Little, P., additional, Mattina, T., additional, Negrini, M., additional, Ohki, M., additional, Osborne Lawrence, S., additional, Parente, F., additional, Quincey, D., additional, Raynaud, S., additional, Reid, L., additional, Rethy, L.A., additional, Schuuring, E., additional, Sellar, G., additional, Stilgenbauer, S., additional, Talbot, C., additional, Taschner, P., additional, Thangarajah, T., additional, Tunnacliffe, A., additional, Turc-Carel, C., additional, van Heyningen, V., additional, Weber, G., additional, and Zabel, B., additional

Published
1999
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47. Collaborative prospective study of the fragile X syndrome: One‐year progress report

Author

Sherman, S. L., primary, Barbi, G., additional, Brøndum‐Nielsen, K., additional, Brown, W. T., additional, Carpenter, N. J., additional, Chudley, A. E., additional, Ferraz, O. P., additional, Ferreira, P., additional, Gustavson, K‐H., additional, Halliday, J., additional, Hockey, A., additional, Howard‐Peebles, P. N., additional, Jenkins, E., additional, Kennerknecht, I., additional, Kähkönen, M., additional, Ladaïque, P., additional, Leisti, J., additional, Maddalena, A., additional, Mazurczak, T., additional, Mattei, J‐F., additional, Mattina, T., additional, McKinley, M. J., additional, Murphy, P., additional, Pellissier, M. C., additional, Purvis‐Smith, S., additional, Robinson, H., additional, Scapagnini, U., additional, Schaap, T., additional, Shapiro, L. R., additional, Smits, A. P. T., additional, Steinbach, P., additional, Turner, G., additional, Uchida, I. A., additional, Van Oost, B. A., additional, Voelckel, M‐A., additional, Weaver, D. D., additional, and Webb, T., additional

Published
1992
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50. Partial trisomy 12q: report of a case and review.

Author

Roberts, S H, Mattina, T, Laurence, K M, Sorge, G, and Pavone, L

Abstract

A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1), is described. The cytogenetic and clinical abnormalities of the proband are compared with those of four previously reported cases of partial trisomy 12q, two of which also appear to have pure trisomy of segment 12q24.1 leads to 12 qter. [ABSTRACT FROM PUBLISHER]

Published
1981

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