BIOMAT Database Logo BIOMAT Database Logo

A phenotypical male infant with 46,X,der(Y)t(X;Y)(?;p11) de novo. 1997

L C Govaerts, and J M Draaisma, and M vd Blij-Philipsen, and D F Smeets
Department of Clinical Genetics, Stichting Erfelijkheidsonderzoek, Veldhoven, The Netherlands.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012729 Sex Chromosome Aberrations Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT. Sex Chromosome Abnormalities,Abnormalities, Sex Chromosome,Chromosome Abnormalities, Sex,Aberration, Sex Chromosome,Aberrations, Sex Chromosome,Abnormality, Sex Chromosome,Chromosome Aberration, Sex,Chromosome Aberrations, Sex,Chromosome Abnormality, Sex,Sex Chromosome Aberration,Sex Chromosome Abnormality
D014178 Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic
D014998 Y Chromosome The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained. Chromosome, Y,Chromosomes, Y,Y Chromosomes
D017404 In Situ Hybridization, Fluorescence A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei. FISH Technique,Fluorescent in Situ Hybridization,Hybridization in Situ, Fluorescence,FISH Technic,Hybridization in Situ, Fluorescent,In Situ Hybridization, Fluorescent,FISH Technics,FISH Techniques,Technic, FISH,Technics, FISH,Technique, FISH,Techniques, FISH

Related Publications

L C Govaerts, and J M Draaisma, and M vd Blij-Philipsen, and D F Smeets
[Genetic analysis of a fetus with de novo 46,X,der(X)t(X;Y)(q26;q11)].
May 2023, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
L C Govaerts, and J M Draaisma, and M vd Blij-Philipsen, and D F Smeets
Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus.
January 2011, European journal of medical genetics,
L C Govaerts, and J M Draaisma, and M vd Blij-Philipsen, and D F Smeets
Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2).
January 2013, Gene,
L C Govaerts, and J M Draaisma, and M vd Blij-Philipsen, and D F Smeets
46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male.
May 2012, Indian journal of human genetics,
L C Govaerts, and J M Draaisma, and M vd Blij-Philipsen, and D F Smeets
[Trisomy 10p due to t(Y;10)(p11; p11) "de novo"].
January 1979, Pathologica,
L C Govaerts, and J M Draaisma, and M vd Blij-Philipsen, and D F Smeets
Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3).
June 2012, Congenital anomalies,
L C Govaerts, and J M Draaisma, and M vd Blij-Philipsen, and D F Smeets
CHARGE association in a child with de Novo chromosomal aberration 46, X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping.
December 2000, Journal of medical genetics,
L C Govaerts, and J M Draaisma, and M vd Blij-Philipsen, and D F Smeets
A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y de novo karyotype.
January 2005, Genetic counseling (Geneva, Switzerland),
L C Govaerts, and J M Draaisma, and M vd Blij-Philipsen, and D F Smeets
[Prenatal diagnosis of two fetuses with de novo 46,X,psu dic(Y)/45,X mosaicism].
September 2020, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
L C Govaerts, and J M Draaisma, and M vd Blij-Philipsen, and D F Smeets
Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11).
January 1979, Human genetics,
Copied contents to your clipboard!