BIOMAT Database Logo BIOMAT Database Logo

[Distal trisomy 15q]. 1977

C Turleau, and J de Grouchy, and F Chavin-Colin, and M Roubin

A patient with distal 15q trisomy resulting from malsegregation of a maternal t(13;15)(q33;q21.2) showed the following symptoms: micro-dolichocephaly, palpebral fissures slightly oriented downwards and outwards, a large nose, pronounced micrognathia, prominent authelices, ligamental abnormalities, osseous malformations evocative of diastrophic dwarfism, severe congenital heart defect, and profound encephalopathy. He died at five months of age. This observation is compared with two others from the literature.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
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
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
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
D014314 Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial

Related Publications

C Turleau, and J de Grouchy, and F Chavin-Colin, and M Roubin
Distal 15q trisomy with Dandy-Walker malformation in a female infant.
September 1985, Jinrui idengaku zasshi. The Japanese journal of human genetics,
C Turleau, and J de Grouchy, and F Chavin-Colin, and M Roubin
Distal trisomy of 10q with distal monosomy of 15q due to a paternal translocation.
January 2009, The Journal of international medical research,
C Turleau, and J de Grouchy, and F Chavin-Colin, and M Roubin
Distal 15q trisomy: phenotypic comparison of nine cases in an extended family.
March 1984, American journal of human genetics,
C Turleau, and J de Grouchy, and F Chavin-Colin, and M Roubin
Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.
May 1997, Journal of medical genetics,
C Turleau, and J de Grouchy, and F Chavin-Colin, and M Roubin
Optic disc Drusen associated with trisomy 15q.
February 2002, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus,
C Turleau, and J de Grouchy, and F Chavin-Colin, and M Roubin
A new case of partial trisomy 15q-.
October 1979, Human genetics,
C Turleau, and J de Grouchy, and F Chavin-Colin, and M Roubin
Partial trisomy 15q dist--a new syndrome?
January 1982, Acta medica Iugoslavica,
C Turleau, and J de Grouchy, and F Chavin-Colin, and M Roubin
Partial 15q trisomy: report of three siblings.
January 1985, The Journal of pedodontics,
C Turleau, and J de Grouchy, and F Chavin-Colin, and M Roubin
De novo partial trisomy 15q (proximal type).
April 1988, Journal of medical genetics,
C Turleau, and J de Grouchy, and F Chavin-Colin, and M Roubin
A boy with proximal trisomy 15 and a male foetus with distal trisomy 15 due to a familial 13p;15q translocation.
July 1982, Clinical genetics,
Copied contents to your clipboard!