A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with cytogenetic diagnosis caused by tissue-specific m...

Full description

Bibliographic Details
Main Authors:	T. V. Karamysheva, I. N. Lebedev, L. I. Minaycheva, L. P. Nazarenko, A. A. Kashevarova, D. A. Fedotov, N. A. Skryabin, M. E. Lopatkina, A. D. Cheremnykh, E. A. Fonova, T. V. Nikitina, E. A. Sazhenova, M. M. Skleimova, N. A. Kolesnikov, G. V. Drozdov, Y. S. Yakovleva, G. N. Seitova, K. E. Orishchenko, N. B. Rubtsov
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2024-03-01
Series:	Frontiers in Genetics
Subjects:	Pallister-Killian syndrome (PKS) mosaic trisomy 12p a supernumerary marker of chromosome 12 the chromosomal region 12pter-12q11 chromosomal abnormalities duplication 12p13.33-p11.1
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1331066/full

Similar Items

Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review
by: Afaf Elsheikh, et al.
Published: (2019-05-01)

Potentials of interaction of 10,11,12,13B isotopes with 12C
by: S. Yu. Mezhevych, et al.
Published: (2022-09-01)

Prenatal diagnosis of a familial 9p12 amplification inherited from a father carrier
by: Chih-Ping Chen, et al.
Published: (2021-09-01)

Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature
by: Amerh Salem Alqahtani, et al.
Published: (2019-10-01)

New Characterization Of (1,2)S_P-Kernel In Bitopological Spaces
by: S Dhanalakshmi, et al.
Published: (2023-01-01)

Mosaicism for a 12p12.1p12.2 microdeletion with a normal euploid cell line at amniocentesis in a pregnancy with a favorable outcome and postnatal decrease of the aneuploid cell line with microdeletion
by: Chih-Ping Chen, et al.
Published: (2023-09-01)

Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis
by: Francesco Libotte, et al.
Published: (2016-12-01)

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
by: Lynnea Myers, et al.
Published: (2020-01-01)

Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications: A novel syndrome?
by: Kamal F. Akl, et al.
Published: (2015-04-01)

Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss
by: Haemi Choi, et al.
Published: (2024-04-01)

Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome
by: Yakut S, et al.
Published: (2012-01-01)

Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies
by: Ru Li, et al.
Published: (2014-12-01)

QTL fine mapping for intramuscular fat and fatty acid composition using high-density SNP chip array on SSC12 in Korean native pig × Yorkshire F2 population
by: Sangwook Kim, et al.
Published: (2019-04-01)

Scattered genomic amplification in dedifferentiated liposarcoma
by: Nils Mandahl, et al.
Published: (2017-06-01)

Paroxysmal disorders in children receiving substitution therapy with vitamin B12
by: M. V. Barkhatov, et al.
Published: (2018-01-01)

Chromosome Translocations, Gene Fusions, and Their Molecular Consequences in Pleomorphic Salivary Gland Adenomas
by: Göran Stenman, et al.
Published: (2022-08-01)

Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review
by: Ji Yoon Han, et al.
Published: (2021-06-01)

Antibody response in vaccinated pregnant mares to recent G3BP[12] and G14P[12] equine rotaviruses
by: Nemoto Manabu, et al.
Published: (2012-11-01)

Novel approaches to P2Y12 inhibition and aspirin dosing
by: William A. E. Parker, et al.
Published: (2021-01-01)

Regulation of Tissue Inflammation by 12-Lipoxygenases
by: Abhishek Kulkarni, et al.
Published: (2021-05-01)

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases
by: Birsen Karaman, et al.
Published: (2018-08-01)

Changes in Serum IL-12 Levels following the Administration of H1-Antihistamines in Patients with Chronic Spontaneous Urticaria
by: Corina Daniela Ene, et al.
Published: (2024-03-01)

Genetic evaluation in infertility: Case of infertile couple with deletion and duplication of chromosome 9q12
by: Risha Nahar, et al.
Published: (2015-01-01)

On A Bitopological (1,2)*- Proper Functions
by: Sabiha I . Mahmood
Published: (2017-04-01)

An update on vitamin B12-related gene polymorphisms and B12 status
by: S. Surendran, et al.
Published: (2018-02-01)

Deactivation of 12(S)-HETE through (ω-1)-hydroxylation and β-oxidation in alternatively activated macrophages
by: Tamas Kriska, et al.
Published: (2018-04-01)

Microdeletion 12p12.1 involving SRY-related HMG-box 5 gene with developmental delay and autistic behavior: A rare case report
by: Manisha Goyal, et al.
Published: (2023-01-01)

SYNTHESIS AND APPLICATION OF THE 11-BISHOMODRIMANE-8α-OL -12-ONE
by: Aculina Aricu
Published: (2008-12-01)

Perisentrik inv(12)(p11.2q14)’nin İnfertilite ve Tekrarlayan Düşüklerle İlişkisi: Vaka Örneği ve Literatür Taraması
by: Murat KAYA, et al.
Published: (2019-08-01)

Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review
by: Aurora Arghir, et al.
Published: (2021-05-01)

NLRP12-associated periodic syndrome: A description of the authors' own observation and an analysis of literature data
by: M. F. Dubko, et al.
Published: (2017-04-01)

Activation of ERK Signaling via TLR11 Induces IL-12p40 Production in Peritoneal Macrophages Challenged by Neospora caninum
by: Xiaoxia Jin, et al.
Published: (2017-07-01)

DYNAMICS OF IL12 CYTOKINE EXPRESSION IN HUMAN MACROPHAGES AFTER TREATMENT WITH DIOXIN
by: D. Y. Oshchepkov, et al.
Published: (2015-01-01)

STUDY REGARDING IMPROVING O F AMBIDEXTERITY FOR CHILDREN OF 11-12 YEARS
by: Dana Ioana Cristea, et al.
Published: (2019-06-01)

Correlation P2Y12 Genetic Polymorphism As Risk Factor of Clopidogrel Resistance in Indonesian Stroke Patients
by: Hidayat R, et al.
Published: (2023-01-01)

Coexistence of trisomy 12 and del(13)(q14.3) in two patients with chronic lymphocytic leukemia
by: Denčić-Fekete Marija, et al.
Published: (2009-01-01)

Market multiples and stock returns among emerging and developed financial markets
by: Tahir Akhtar
Published: (2021-03-01)

Size effect and growth options over firm lifecycle
by: Qiang Li, et al.
Published: (2022-06-01)

A comparative study of p40 and 34βe12 as basal cell markers in the diagnosis of prostate glandular proliferations
by: Ashwini Gugihal, et al.
Published: (2018-10-01)

Place of Prasugrel, P2Y12 receptor antagonist, in an early invasive treatment of patients with acute coronary syndrome (according to the results of multicenter randomized controlled trial ISAR-REACT 5)
by: S. N. Tereshchenko, et al.
Published: (2019-11-01)