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PMID: 1018309 Published · ppublish English Case Reports Journal Article

Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.

Journal of medical genetics ·Vol. 13 ·No. 6 ·1976-12-00 ·Pages 507-10

Sills JA, Buckton KE, Raeburn JA

Abstract

A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations.

MeSH Terms
Child Chromosome Aberrations Chromosome Deletion Chromosomes, Human, 1-3 Chromosomes, Human, 6-12 and X Humans Intellectual Disability/genetics Karyotyping Male Translocation, Genetic Trisomy
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Sills J A
Buckton K E
Raeburn J A
References (15)
15 references, click to expand
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.13.6.507
Published
1976-12-00
Pages
507-10
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1013478
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.13.6.507 PMC Full Text View journal details
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