BIOMAT Database Logo BIOMAT Database Logo

Partial trisomy 13: karyotype 46,XY,-6, plus t(13q,6q). 1974

J P Fryns, and E Eggermont, and H Verresen, and H van den Berghe

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. 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
D001724 Birth Weight The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms. Birthweight,Birth Weights,Birthweights,Weight, Birth,Weights, Birth
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002901 Chromosomes, Human, 13-15 The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15. Chromosomes D,Group D Chromosomes,Chromosome, Group D,Chromosomes, Group D,Group D Chromosome
D002906 Chromosomes, Human, 6-12 and X The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome. Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D001034 Apgar Score A method, developed by Dr. Virginia Apgar, to evaluate a newborn's adjustment to extrauterine life. Five items - heart rate, respiratory effort, muscle tone, reflex irritability, and color - are evaluated 60 seconds after birth and again five minutes later on a scale from 0-2, 0 being the lowest, 2 being normal. The five numbers are added for the Apgar score. A score of 0-3 represents severe distress, 4-7 indicates moderate distress, and a score of 7-10 predicts an absence of difficulty in adjusting to extrauterine life. Score, Apgar

Related Publications

J P Fryns, and E Eggermont, and H Verresen, and H van den Berghe
Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+.
May 1973, Humangenetik,
J P Fryns, and E Eggermont, and H Verresen, and H van den Berghe
[Unusual clinical and cytogenetic findings in a child with trisomy 13 (46, XY, -13, +t (13q 13q))].
January 1983, Padiatrie und Padologie,
J P Fryns, and E Eggermont, and H Verresen, and H van den Berghe
Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13).
July 1979, Human genetics,
J P Fryns, and E Eggermont, and H Verresen, and H van den Berghe
Partial trisomy 6p with karyotype 46,XY,der(22), t(6;22)(p22;q13)mat.
December 1978, Journal of medical genetics,
J P Fryns, and E Eggermont, and H Verresen, and H van den Berghe
Partial trisomy 13 [46,XY,dup(13)(q14-31)]: a case report.
March 1998, Changgeng yi xue za zhi,
J P Fryns, and E Eggermont, and H Verresen, and H van den Berghe
[Patau's syndrome with single mosaicism: 46,XY,13-,t(13p13p)+46,XY,13-,t(13p13p)+ or 46,XY,13-,(13p13p) and 46,Xy,13-,(13q13q)].
September 1976, Minerva pediatrica,
J P Fryns, and E Eggermont, and H Verresen, and H van den Berghe
Hypomelanosis of ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10), +13/46,xy].
January 2002, The Turkish journal of pediatrics,
J P Fryns, and E Eggermont, and H Verresen, and H van den Berghe
[C-G translocation: karyotype 46, XY,t(Cq-; Gq+): parents 46, XX and 46, XY].
January 1971, Acta paediatrica Belgica,
J P Fryns, and E Eggermont, and H Verresen, and H van den Berghe
Trisomy 18q: 46,XX,13q+,t(13;18)(q32;q11) in a newborn associated with multiple congenital anomalies due to paternal reciprocal translocation, 46,XY,-13,+der(13),t(13;18)(q32;q11).
October 1980, Clinical genetics,
J P Fryns, and E Eggermont, and H Verresen, and H van den Berghe
Female with 46, XY karyotype.
July 2017, Obstetrics & gynecology science,
Copied contents to your clipboard!