13-15 trisomy mosiacism in a normal-looking 14-year-old retarded girl.
Journal of Medical GeneticsPublished 1 June 1966Open access
David A. Stone, A S Akad, Carlton Noyes, EDWIN T. LAMSON
Citations12
SJR quartileQ1
SJR score1.62
SNIP1.40
Generate an AI Snapshot to get a quick, structured summary of this paper.
Study Snapshot
ObjectiveStudy objective
MethodsResearch methodology
PopulationPopulation studied
Sample sizeSample sizes
OutcomesStudy outcomes here
ResultsStudy results comes here
LimitationsResearch study limitations comes here
A concise AI-generated summary of the paper will appear here once you click Generate AI Snapshot.
TL;DR
A further case of this type of chromosome mosaicism involving I3-15 trisomy with an incomplete clinical syndrome involving mental retardation and a wide variety of clinical disorders is described.
Keywords
Biochemistry, Genetics and Molecular Biology
Experimental Cell ResearchChromosome preparations of leukocytes cultured from human peripheral blood
4,244 Citations1960Paul S. Moorhead, Peter C. Nowell̀ +3 more
A combination of cytological and leukocyte culture techniques is described which constitutes a convenient, reliable approach for chromosome studies of humans and yields the following advantages: relative ease of obtaining blood and small volume required.
BMJMosaicism in a Mother with a Mongol Child
63 Citations1962C. E. Blank, Emily Gemmell +2 more
It is believed that the extent of the epidemic was far greater than the 61 cases reported would indicate, and it is suggested that some form of notification of infectious hepatitis is desirable in order to improve knowledge of the aetiology and epidemiology of this disease.
New England Journal of MedicineMultiple Congenital Abnormalities Associated with Chromosomal Trisomy
61 Citations1961Leonard Atkins, Murray K. Rosenthal +1 more
It is now established that trisomy of one of the small acrocentric chromosomes (Denver numbering system, Group 21–222) is associated with the clinical syndrome of mongolism.
The Journal of PediatricsMaternal mosaicism and Down's syndrome (mongolism)
51 Citations1963E. David Weinstein, Josef Warkany
It is concluded that the finding of "regular trisomy 21" Down's syndrome in a child does not exclude an increased risk of recurrence of this chromosomal abnormality in subsequent children of the family.
Cytogenetic and Genome ResearchChromosomal Mosaic in a Girl with some Features of Mongolism
44 Citations1962J. Lindsten, A. Alvin +2 more
Chromosomal mosaic of the normal/trisomy 21 type was found in a two year old girl who had some of the symptoms characteristic of mongolism but was of average intelligence.
The Journal of PediatricsMental retardation, absence of patellae, other malformations with chromosomal mosaicism
41 Citations1962Josef Warkany, Jack H. Rubinstein +2 more
A 61/2-year-old boy presented symptoms somewhat less severe than those of these syndromes, which included mild mental retardation, a communicative disorder, motor incoordination, absent patellae, camptodactyly, mild hydronephrosis, submucous cleft of the posterior hard palate, and other minor anomalies.
