Results 31 to 40 of about 874,608 (238)

Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient

, 2012
Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation ...

core   +2 more sources

Characterization and Association of Marker Chromosomes with Male Infertility

Journal of Men's Health, 2020
Background and objective A small supernumerary marker chromosome (sSMC) is a rare structurally abnormal chromosome in which no part can be identified by conventional cytogenetic banding technique.
Dong Suk Kim, Sang Hee Park, Sung Han Shim, Dae Keun Kim, Sang Woo Lyu, Ji Won Kim, Woo Sik Lee, Seung-Hun Song   +7 more
doaj   +1 more source

Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma

Translational Neuroscience, 2015
We describe an as yet unreported neocentric small supernumerary marker chromosome (sSMC) derived from chromosome 1p21.3p21.2. It was present in 80% of the lymphocytes in a male patient with intellectual disability, severe speech deficit, mild dysmorphic ...
Brečević Lukrecija, Rinčić Martina, Krsnik Željka, Sedmak Goran, Hamid Ahmed B., Kosyakova Nadezda, Galić Ivan, Liehr Thomas, Borovečki Fran   +8 more
doaj   +1 more source

Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report

Molecular Cytogenetics, 2008
Background Small supernumerary marker chromosomes (sSMC) occur in 0.075% of unselected prenatal and in 0.044% of consecutively studied postnatal cases. Individuals with sSMC present with varying phenotype, ranging from normal to extremely mild or severe ...
Pramathan R, Padariyakam Shabeer, Mani Sara, Al-Rowaished Eman EM, Naveed Sehba, Jacob Preenu S, Malhotra Ashok K, Murthy Sabita K, Nath Ravi, Al-Ali Mahmoud, Al-Gazali Lihadh   +10 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 3

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 3.
Chih-Ping Chen, Tsang-Ming Ko, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Chen-Wen Pan, Wayseen Wang   +8 more
doaj   +1 more source

First case of two supernumerary markers derived from chromosome 5 and chromosome 8

Molecular Cytogenetics, 2022
Background Small supernumerary marker chromosomes (sSMC) are additional centric chromosome fragments too small to be identified by banding cytogenetics alone.
Roberta Giansante, Chiara Palka Bayard De Volo, Melissa Alfonsi, Elisena Morizio, Paolo Guanciali Franchi   +4 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 2

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 2.
Chih-Ping Chen, Ming Chen, Shun-Ping Chang, Fang-Yu Hung, Meng-Ju Lee, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Wen-Lin Chen, Wayseen Wang   +12 more
doaj   +1 more source

Supernumerary marker chromosome and global developmental delay: Role of microarray - case report and review of literature [PDF]

, 1970
Small supernumerary marker chromosomes (sSMCs) are defined as structurally abnormal chromosomes that cannot be identified or characterized by conventional karyotype analysis and are generally equal in size or smaller than chromosome 20.
Bachani, Sumitra, Dadhwal, Vatsla, Deka, Deepika   +2 more
core   +1 more source

Impact of Microarray on Supernumerary Marker Chromosome and Global Developmental Delay

, 2021
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that are equal in size or smaller than chromosome 20 and it can be recognised or characterised by conventional karyotype analysis.
Deepika Deka, Vatsla Dadhwal, Sumitra Bachani   +2 more
core   +1 more source

A supernumerary marker chromosome originating from two different regions of chromosome 18

, 2000
By random amplification of a microdissected chromosome using the degenerate oligonucleotide primed polymerase chain reaction (DOP-PCR) and forward painting (microFISH), we characterised an extra structurally abnormal chromosome (ESAC) or supernumerary ...
Schinzel, Albert, Balmer, Damina, Röthlisberger, Benno, Chrzanowska, Krystyna, Riegel, Mariluce; https://orcid.org/   +4 more
core   +1 more source