A rare case of mosaic Down syndrome 46,XY/46,XY, ‐21, +i(21q) Journal Articles

abstract

• Detailed studies were carried out on a patient with a rare type of mosaicism which gave rise to an effective 21 trisomy. The clinical signs of Down syndrome were minimal. The cytogenetic interpretation is that the abnormal clone had an isochromosome derived from a maternal No. 21. The normal cell line appears to be replacing the abnormal clone.

authors

• Uchida, Irene A
• Whelan, Donald

status

• published 

publication date

• April 1980

has subject area

• 0604 Genetics (FoR)
• 1103 Clinical Sciences (FoR)
• Chromosomes, Human, 21-22 and Y (MeSH)
• Dermatoglyphics (MeSH)
• Down Syndrome (MeSH)
• Genetics & Heredity (Science Metrix)
• Humans (MeSH)
• Infant, Newborn (MeSH)
• Lymphocytes (MeSH)
• Male (MeSH)
• Mosaicism (MeSH)

published in

• Clinical Genetics  Journal

keywords

• Chromosomes, Human, 21-22 and Y
• Dermatoglyphics
• Down Syndrome
• Humans
• Infant, Newborn
• Lymphocytes
• Male
• Mosaicism

Digital Object Identifier (DOI)

• 10.1111/j.1399-0004.1980.tb00146.x

PubMed ID

• 6445245

start page

• 271

end page

• 274

volume

• 17

issue

• 4