Format
Items per page

Send to:

Choose Destination

Search results

Items: 14

1.

Mosaicism

The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.

Year introduced: 1967(1964)

2.
3.
4.
5.

Chromosome 17 trisomy [Supplementary Concept]

Duplication of chromosome 17 in some tissues (trisomy 17 mosaicism) is among the rarest trisomy in humans and full trisomy 17 has never been observed in living individuals. In mosaic cases, where trisomy occurs only in some cell populations, affected individuals may experience developmental delays, body asymmetry, slow growth, and cerebellar hypoplasia.

Date introduced: August 25, 2010

6.
7.

Chromosome 8, mosaic trisomy [Supplementary Concept]

A chromosomal disorder characterized by the presence of a third copy of chromosome 8 in some cell populations. Affected individuals may have craniofacial abnormalities, mild intellectual disability, joint, urinary, cardiac, and skeletal defects. They are also at higher risk for developing WILMS TUMOR and MYELODYSPLASTIC SYNDROMES.

Date introduced: August 25, 2010

8.
9.

Mosaic variegated aneuploidy syndrome [Supplementary Concept]

A hereditary autosomal recessive disorder characterized by mosaicism, with ANEUPLOIDIES, particularly TRISOMIES and MONOSOMIES of different CHROMOSOMES occuring in the cells of various tissues; aneuploid cells usually constitute more than 25%. Affected individuals typically have severe intrauterine growth retardation and MICROCEPHALY. Various other CONGENITAL ABNORMALITIES and DEVELOPMENTAL DISABILITIES may also be present, as well as an increased risk for developing CANCER. Germline mutations in the BUB1B gene have been identified. OMIM: 257300

Date introduced: August 25, 2010

10.
11.
12.

Chromosome 13q-mosaicism [Supplementary Concept]

Date introduced: August 25, 2010

13.
14.

Chromosome 20, trisomy [Supplementary Concept]

Date introduced: August 25, 2010

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Loading ...
Support Center