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Tytuł:
New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception.
Autorzy:
Serra G; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy. .
Antona V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy.
Cimador M; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy.
Collodoro G; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy.
Guida M; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy.
Piro E; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy.
Schierz IAM; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy.
Verde V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy.
Giuffrè M; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy.
Corsello G; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy.
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Źródło:
Italian journal of pediatrics [Ital J Pediatr] 2023 Feb 09; Vol. 49 (1), pp. 17. Date of Electronic Publication: 2023 Feb 09.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Trisomy*/diagnosis
Trisomy*/genetics
Abnormalities, Multiple*/diagnosis
Abnormalities, Multiple*/genetics
Pregnancy ; Infant, Newborn ; Female ; Humans ; Chromosomes, Human, Pair 3/genetics ; DNA
SCR Disease Name:
Partial Trisomy 3q Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.
Autorzy:
Ruiz-Botero F; Faculty of Health, Universidad Icesi, Research Centre on Congenital Anomalies and Rare Diseases (CIACER), Calle 18 No. 122-135, bloque L, Oficina: 5025A Pance, Cali, Colombia.
Pachajoa H; Faculty of Health, Universidad Icesi, Research Centre on Congenital Anomalies and Rare Diseases (CIACER), Calle 18 No. 122-135, bloque L, Oficina: 5025A Pance, Cali, Colombia. .
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Źródło:
Journal of medical case reports [J Med Case Rep] 2016 Jul 27; Vol. 10, pp. 204. Date of Electronic Publication: 2016 Jul 27.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Abnormalities, Multiple/*genetics
Developmental Disabilities/*genetics
Trisomy/*diagnosis
Trisomy/*genetics
Abnormalities, Multiple/diagnosis ; Child ; Chromosome Deletion ; Chromosomes, Human, Pair 21/genetics ; Chromosomes, Human, Pair 7/genetics ; Colombia ; Comparative Genomic Hybridization/methods ; Developmental Disabilities/complications ; Diagnosis, Differential ; Female ; Genetic Association Studies/methods ; Humans ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Microarray Analysis/methods ; Proteomics/methods
SCR Disease Name:
Chromosome 21, monosomy 21q22; Chromosome 7, trisomy 7q
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Prenatal diagnosis of sub-microscopic partial trisomy 10q using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype.
Autorzy:
Browne PC; Georgia Regents University School of Medicine, Department of Obstetrics and Gynecology, Macon, GA, USA and NavicentHealth, Medical Center of Centeral Georgia (MCCG), Mercer University, Department of Obstetrics and Gynecology, Macon, GA, USA.
Adam S; Georgia Regents University School of Medicine, Department of Obstetrics and Gynecology, Macon, GA, USA and NavicentHealth, Medical Center of Centeral Georgia (MCCG), Mercer University, Department of Obstetrics and Gynecology, Macon, GA, USA.
Badr M; Georgia Regents University School of Medicine, Department of Obstetrics and Gynecology, Macon, GA, USA and NavicentHealth, Medical Center of Centeral Georgia (MCCG), Mercer University, Department of Obstetrics and Gynecology, Macon, GA, USA.
Brooks CR; Department of Medical Genetics, University of South Carolina, SC, USA.
Edwards J; Department of Medical Genetics, University of South Carolina, SC, USA.
Walker P; Department of Medical Genetics, University of South Carolina, SC, USA.
Mohamed S; Department of Obstetrics and Gynecology, Manousa University, Egypt.
Gregg AR; Department of Obstetrics and Gynecology, University of Florida, Gainesville, FL, USA.
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Źródło:
Journal of neonatal-perinatal medicine [J Neonatal Perinatal Med] 2016 May 17; Vol. 9 (2), pp. 217-22.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Karyotype*
Prenatal Diagnosis*
Abnormalities, Multiple/*diagnosis
Chromosome Disorders/*diagnosis
Fetal Diseases/*diagnosis
Microarray Analysis/*methods
Trisomy/*diagnosis
Abnormalities, Multiple/genetics ; Abortion, Induced ; Adult ; Chromosome Disorders/genetics ; Chromosomes, Human, Pair 10/genetics ; Female ; Fetal Diseases/genetics ; Genetic Counseling ; Humans ; Karyotyping ; Pregnancy ; Trisomy/genetics
SCR Disease Name:
Chromosome 10q duplication syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments.
Autorzy:
Imataka G; Department of Pediatrics, Dokkyo Medical University School of Medicine, Shimotsuga, Tocihgi 321‑0293, Japan.
Suzumura H; Department of Pediatrics, Dokkyo Medical University School of Medicine, Shimotsuga, Tocihgi 321‑0293, Japan.
Arisaka O; Department of Pediatrics, Dokkyo Medical University School of Medicine, Shimotsuga, Tocihgi 321‑0293, Japan.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2016 Mar; Vol. 13 (3), pp. 2457-66. Date of Electronic Publication: 2016 Jan 22.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple/*mortality
Heart Septal Defects, Ventricular/*mortality
Trisomy/*pathology
Abnormalities, Multiple/genetics ; Abnormalities, Multiple/therapy ; Chromosomes, Human, Pair 18/genetics ; Critical Care ; Female ; Heart Septal Defects, Ventricular/genetics ; Heart Septal Defects, Ventricular/therapy ; Humans ; Infant, Newborn ; Kaplan-Meier Estimate ; Male ; Retrospective Studies ; Trisomy/genetics ; Trisomy 18 Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
Autorzy:
Paththinige CS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo, 00800, Sri Lanka. .; Faculty of Medicine and Allied Sciences, Rajarata University of Sri Lanka, Saliyapura, Anuradhapura, 50008, Sri Lanka. .
Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo, 00800, Sri Lanka.
Kariyawasam UGIU; Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo, 00800, Sri Lanka.
Ediriweera RC; Lady Ridgeway Hospital for Children, Colombo, 00800, Sri Lanka.
Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, MD, USA.
Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, MD, USA.
Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo, 00800, Sri Lanka.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2018 May 08; Vol. 11 (1), pp. 44. Date of Electronic Publication: 2018 May 08.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Translocation, Genetic*
Abnormalities, Multiple/*genetics
Chromosomes, Human, Pair 7/*genetics
Maternal Inheritance/*genetics
Trisomy/*genetics
Adult ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Pregnancy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report.
Autorzy:
Zhou YC; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
Zhang C; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
Zhai JS; Department of Healthcare, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
Li TF; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
Wu QY; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
Li WW; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
Li N; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
Li XJ; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
Huang YF; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
Cui YX; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
Xia XY; Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, P.R. China.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2015 Jul; Vol. 12 (1), pp. 155-8. Date of Electronic Publication: 2015 Mar 05.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Abnormalities, Multiple/*genetics
Hearing Loss, Sensorineural/*genetics
Trisomy/*genetics
Abnormalities, Multiple/pathology ; Abnormalities, Multiple/physiopathology ; Child, Preschool ; Chromosome Banding ; Chromosome Mapping ; Chromosomes, Human, Pair 9/genetics ; Female ; Genotype ; Hearing Loss, Sensorineural/pathology ; Hearing Loss, Sensorineural/physiopathology ; Humans ; Karyotyping ; Phenotype ; Trisomy/pathology ; Trisomy/physiopathology
SCR Disease Name:
Chromosome 9, partial trisomy 9p
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Distal 10q trisomy with copy number gain in chromosome region 10q23.1-10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report.
Autorzy:
Wong SL; Departments of Pediatrics, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan. .
Chou HH; Departments of Pediatrics, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan. .
Chao CN; Departments of Pediatrics, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan. .
Leung JH; Departments of Radiology, Ditmanson Medical Foundation Chia-Yi Christian Hospital, Chiayi, Taiwan. .
Chen YH; Departments of Medical Research, Ditmanson Medical Foundation Chia-Yi Christian Hospital, 539 Zhongxiao Road, East District, Chiayi, 600, Taiwan. .
Hsu CD; Departments of Medical Research, Ditmanson Medical Foundation Chia-Yi Christian Hospital, 539 Zhongxiao Road, East District, Chiayi, 600, Taiwan. .
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Źródło:
BMC research notes [BMC Res Notes] 2015 Jun 19; Vol. 8, pp. 250. Date of Electronic Publication: 2015 Jun 19.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Abnormalities, Multiple/*genetics
Chromosome Disorders/*genetics
Intellectual Disability/*genetics
Kidney Diseases, Cystic/*genetics
Renal Insufficiency, Chronic/*genetics
Trisomy/*genetics
Wnt Signaling Pathway/*genetics
Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/pathology ; Cell Cycle Proteins/genetics ; Child ; Chromosome Disorders/diagnosis ; Chromosome Disorders/pathology ; Chromosomes, Human, Pair 10/genetics ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; DNA-Binding Proteins/genetics ; Facies ; Gene Expression ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/pathology ; Kidney Diseases, Cystic/diagnosis ; Kidney Diseases, Cystic/pathology ; Male ; NF-kappa B p52 Subunit/genetics ; PTEN Phosphohydrolase/genetics ; Real-Time Polymerase Chain Reaction ; Renal Insufficiency, Chronic/diagnosis ; Renal Insufficiency, Chronic/pathology ; Trisomy/diagnosis ; Trisomy/pathology ; Tumor Suppressor Proteins/genetics ; Wnt Proteins/genetics
SCR Disease Name:
Chromosome 10q duplication syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Partial duplication of chromosome 19 associated with syndromic duane retraction syndrome.
Autorzy:
Abu-Amero KK; Department of Ophthalmology, College of Medicine, King Saud University , Riyadh , Saudi Arabia .
Kondkar AA
Al Otaibi A
Alorainy IA
Khan AO
Hellani AM
Oystreck DT
Bosley TM
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2015 Mar; Vol. 36 (1), pp. 14-20. Date of Electronic Publication: 2013 Aug 19.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Abnormalities, Multiple*
Duane Retraction Syndrome/*genetics
Nervous System Malformations/*genetics
Receptors, KIR/*genetics
Trisomy/*genetics
Child ; Chromosomes, Human, Pair 19/genetics ; Comparative Genomic Hybridization ; DNA-Binding Proteins/genetics ; Ear/abnormalities ; Female ; Homeodomain Proteins/genetics ; Humans ; Kinesins/genetics ; Magnetic Resonance Imaging ; Pedigree ; Polymerase Chain Reaction ; Receptors, Steroid/genetics ; Receptors, Thyroid Hormone/genetics ; Transcription Factors/genetics
SCR Disease Name:
Chromosome 19, trisomy 19q
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.
Autorzy:
Papadopoulou Z; Laboratory of Biology, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina 45110, Greece.
Papoulidis I; Access To Genome, Laboratory of Genetics, Athens 11528‑Thessaloniki 55134, Greece.
Sifakis S; Department of Obstetrics and Gynecology, University Hospital of Heraklion, Heraklion 71201, Greece.
Markopoulos G; Laboratory of Biology, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina 45110, Greece.
Vetro A; Department of Molecular Medicine, University of Pavia, I‑27100 Pavia, Italy.
Vlaikou AM; Laboratory of Biology, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina 45110, Greece.
Ziegler M; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, D‑07743 Jena, Germany.
Liehr T; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, D‑07743 Jena, Germany.
Thomaidis L; Developmental Assessment Unit, 2nd Department of Pediatrics, P. & A. Kyriakou Children's Hospital, National and Kapodistrian University of Athens School of Medicine, Athens 11527, Greece.
Zuffardi O; Department of Molecular Medicine, University of Pavia, I‑27100 Pavia, Italy.
Syrrou M; Laboratory of Biology, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina 45110, Greece.
George K; Department of Ophthalmology, University of Ioannina, Ioannina 45110, Greece.
Manolakos E; Access To Genome, Laboratory of Genetics, Athens 11528‑Thessaloniki 55134, Greece.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2017 Dec; Vol. 16 (6), pp. 8808-8818. Date of Electronic Publication: 2017 Oct 10.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Chromosome Deletion*
Comparative Genomic Hybridization*
Genetic Association Studies*
Trisomy*
Developmental Disabilities/*diagnosis
Developmental Disabilities/*genetics
Abnormalities, Multiple ; Child ; Chromosomes, Human, Pair 16 ; Chromosomes, Human, Pair 8 ; Computational Biology/methods ; Echocardiography ; Gene Dosage ; Genetic Variation ; Humans ; Male ; Microsatellite Repeats/genetics ; Phenotype
SCR Disease Name:
Chromosome 16, trisomy 16q; Chromosome 8, monosomy 8p
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report.
Autorzy:
Wu D; Medical Genetics Institute of Henan, Zhengzhou University, Zhengzhou, Henan 450003, P.R. China.
Zhang H; Medical Genetics Institute of Henan, Zhengzhou University, Zhengzhou, Henan 450003, P.R. China.
Hou Q; Medical Genetics Institute of Henan, Zhengzhou University, Zhengzhou, Henan 450003, P.R. China.
Wang H; Medical Genetics Institute of Henan, Zhengzhou University, Zhengzhou, Henan 450003, P.R. China.
Wang T; Medical Genetics Institute of Henan, Zhengzhou University, Zhengzhou, Henan 450003, P.R. China.
Liao S; Medical Genetics Institute of Henan, Zhengzhou University, Zhengzhou, Henan 450003, P.R. China.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2017 Nov; Vol. 16 (5), pp. 6222-6227. Date of Electronic Publication: 2017 Aug 29.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosome Disorders/*genetics
Monosomy/*genetics
Translocation, Genetic/*genetics
Trisomy/*genetics
Abnormalities, Multiple/genetics ; Adult ; Child ; Chromosomes, Human, Pair 4/genetics ; Female ; Genotype ; Humans ; Intellectual Disability ; Karyotyping/methods ; Male ; Phenotype
SCR Disease Name:
Duplication 4p Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Two trisomy 22 live births in one hospital in 15 months: is it as rare as we thought?
Autorzy:
Naicker T; Clinical Genetics, Inkosi Albert Luthuli Central Hospital , Durban , South Africa.
Aldous C
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Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2014 Feb; Vol. 33 (1), pp. 35-41. Date of Electronic Publication: 2013 Oct 04.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Abnormalities, Multiple/*pathology
Live Birth/*genetics
Trisomy/*pathology
Abnormalities, Multiple/genetics ; Chromosomes, Human, Pair 22 ; Female ; Humans ; Infant, Newborn ; South Africa
SCR Disease Name:
Chromosome 22, trisomy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Decision making for seriously compromised newborns: the importance of exploring cultural differences and unintended consequences.
Autorzy:
Penn AA; Lucile Packard Children's Hospital, Stanford, CA, USA.
Paris JJ
Moore MP Jr
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Źródło:
Journal of perinatology : official journal of the California Perinatal Association [J Perinatol] 2013 Jul; Vol. 33 (7), pp. 505-8.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Abnormalities, Multiple*/therapy
Chromosomes, Human, Pair 16*
Culture*
Trisomy*
Decision Making/*ethics
Life Support Care/*ethics
Ethics, Medical ; Fatal Outcome ; Genetic Counseling ; Humans ; Infant, Newborn ; Male ; Parents ; Physician's Role ; Physician-Patient Relations ; Prognosis ; Trust
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Complex cardiac defect, bowing of lower limbs and multiple anomalies in trisomy 22. Ultrasound, post-mortem CT findings with necropsy confirmation.
Autorzy:
Tonni G; Department of Obstetrics & Gynceology, AUSL Reggio Emilia, Guastalla, Italy. />Ventura A
Pattacini P
Bonasoni M
Ferrari B
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Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2012 Dec; Vol. 31 (6), pp. 439-47. Date of Electronic Publication: 2012 Apr 12.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Abnormalities, Multiple*
Autopsy*
Heart Defects, Congenital/*pathology
Limb Deformities, Congenital/*pathology
Trisomy/*diagnosis
Ultrasonography, Prenatal/*methods
Adult ; Amniocentesis ; Chromosomes, Human, Pair 22/genetics ; Fatal Outcome ; Female ; Heart Defects, Congenital/genetics ; Humans ; Limb Deformities, Congenital/genetics ; Magnetic Resonance Imaging ; Reproducibility of Results ; Tomography, X-Ray Computed ; Trisomy/genetics
SCR Disease Name:
Chromosome 22, trisomy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: case report and diagnostic criteria.
Autorzy:
Sergi C; Department of Pathology and Laboratory Medicine, University of Alberta, Edmonton, Alberta, Canada.
Gekas J
Kamnasaran D
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Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2012 Oct; Vol. 31 (5), pp. 315-8. Date of Electronic Publication: 2012 Mar 20.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Abnormalities, Multiple/*pathology
Chromosome Disorders/*diagnosis
Fetal Macrosomia/*diagnosis
Hand Deformities, Congenital/*diagnosis
Holoprosencephaly/*diagnosis
Polydactyly/*diagnosis
Trisomy/*diagnosis
Abnormalities, Multiple/genetics ; Abortion, Eugenic ; Adult ; Chromosome Banding ; Chromosome Disorders/genetics ; Chromosomes, Human, Pair 13/genetics ; DNA Mutational Analysis ; Diagnosis, Differential ; Fatal Outcome ; Female ; Fetal Macrosomia/genetics ; Hand Deformities, Congenital/genetics ; Holoprosencephaly/genetics ; Humans ; Male ; Mutation ; Polydactyly/genetics ; Trisomy/genetics ; Trisomy 13 Syndrome ; Ultrasonography, Prenatal
SCR Disease Name:
Pseudotrisomy 13 syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.
Autorzy:
Magri C; Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy. .
Marchina E; Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy. .
Bertini V; Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy. .
Traversa M; Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy. .
Savio G; Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy. .
Pilotta A; Pediatric Division, Spedali Civili, Brescia, Piazzale Spedali Civili 1, 25123, Brescia, Italy. .
Piovani G; Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy. .
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Źródło:
BMC medical genetics [BMC Med Genet] 2015 Jul 07; Vol. 16, pp. 47. Date of Electronic Publication: 2015 Jul 07.
Typ publikacji:
Case Reports; Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Techniques*
Abnormalities, Multiple/*genetics
Abnormalities, Multiple/*pathology
Psychomotor Disorders/*pathology
Trisomy/*genetics
Adolescent ; Chromosomes, Human, Pair 22/genetics ; Computational Biology ; Female ; Haplotypes/genetics ; Humans ; In Situ Hybridization, Fluorescence/methods ; Polymorphism, Single Nucleotide/genetics ; Psychomotor Disorders/genetics ; Trisomy/pathology
SCR Disease Name:
Chromosome 22, trisomy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Detoxifying death in the neonate: in search of meaningfulness at the end of life.
Autorzy:
Milstein JM; Division of Neonatalogy, Department of Pediatrics, University of California, Davis 95616, USA.
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Źródło:
Journal of perinatology : official journal of the California Perinatal Association [J Perinatol] 2003 Jun; Vol. 23 (4), pp. 333-6.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Attitude to Death*
Palliative Care*
Terminal Care*
Abnormalities, Multiple/*diagnosis
Abnormalities, Multiple/*therapy
Chromosomes, Human, Pair 18/*genetics
Trisomy/*diagnosis
Abnormalities, Multiple/genetics ; Female ; Humans ; Infant, Newborn ; Trisomy/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Development of patients with 47,XX,+13/45,X mosaics: case report and review of the literature.
Autorzy:
Tang HW; Department of Physical Medicine and Rehabilitation, Changhua Christian Hospital, No.135 Nanxiao Street, Changhua, 500, Taiwan, Republic of China.
Liao SF
Li JS
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Źródło:
European journal of pediatrics [Eur J Pediatr] 2014 Feb; Vol. 173 (2), pp. 251-5. Date of Electronic Publication: 2013 May 12.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Abnormalities, Multiple/*diagnosis
Abnormalities, Multiple/*genetics
Chromosome Disorders/*diagnosis
Chromosome Disorders/*genetics
Developmental Disabilities/*diagnosis
Developmental Disabilities/*genetics
Trisomy/*diagnosis
Trisomy/*genetics
Turner Syndrome/*diagnosis
Turner Syndrome/*genetics
Child, Preschool ; Chromosomes, Human, Pair 13/genetics ; Female ; Follow-Up Studies ; Humans ; Infant ; Language Development Disorders/diagnosis ; Language Development Disorders/genetics ; Neurologic Examination ; Neuropsychological Tests ; Social Behavior ; Trisomy 13 Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.
Autorzy:
Jamsheer A; Department of Medical Genetics, University of Medical Sciences in Poznan, Poznan, Poland. />Sowińska A
Simon D
Jamsheer-Bratkowska M
Trzeciak T
Latos-Bieleńska A
Pokaż więcej
Źródło:
BMC medical genetics [BMC Med Genet] 2013 Jan 24; Vol. 14, pp. 13. Date of Electronic Publication: 2013 Jan 24.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cri-du-Chat Syndrome/*genetics
Face/*abnormalities
Heart Defects, Congenital/*genetics
Radius/*abnormalities
Thumb/*abnormalities
Trisomy/*genetics
Abnormalities, Multiple/genetics ; Child ; Chromosomes, Human, Pair 5/genetics ; Dwarfism/genetics ; Humans ; Male
SCR Disease Name:
Chromosome 5, trisomy 5q
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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