Chromosomal Mosaicism in Down's Syndrome: a Diagnostic Challenge

Developmental Medicine & Child Neurology

Volumn 19, Issue 5, 1977, Pages 668-672

  Maisels, M Jeffrey ^b   Dossett, John H ^b   Dobelle, Yvonne ^b  

^a PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOME MOSAICISM; CHILD; DIAGNOSIS; DOWN SYNDROME; FIBROBLAST CULTURE; HISTOLOGY; IN VITRO STUDY; LYMPHOCYTE CULTURE; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; PHENOTYPE; TRISOMY 21;

CASE REPORT; CHILD; DOWN SYNDROME; FEMALE; HUMAN; INFANT, NEWBORN; KARYOTYPING; MALE; MENTAL RETARDATION; MOSAICISM; PHENOTYPE;

EID: 0017720611     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.1977.tb08001.x     Document Type: Article

References (15)

1. Mild characteristic of Down syndrome with normal karyotype in cultured lymphocytes and skin fibroblasts.
2. Chromosome mosaicism in an Indian child with Down's syndrome.
3. Down's syndrome with confirmation of trisomy G solely in fibroblast cultures.
4. Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome.
5. Autosomal trisomy in a chimpanzee: resemblance to Down's syndrome.
6. 12 lethal mutants in vitro
7. The oscillatory nature of hemopoiesis.
8. Paternal normal/trisomy 21 mosaicism as an indication for amniocentesis.
9. Down's syndrome with normal karyotype in the blood.
10. A mosaic mongol with normal leucocyte chromosomes.
11. Cytogenetic evolution and clonal proliferation in acute transformation of chronic granulocytic leukemia.
12. Autonomous erythropoiesis during erythroblastic crisis of chronic myelocytic leukemia.
13. Cell selection in vivo in normal/G trisomic mosaics.
14. Mosaic mongolism. II. Cytogenetic studies.