Partial 10q trisomy (q24;q ter) caused by a balanced maternal translocation t(6;10)(q26;q24) | Trisomía parcial 10q (q24;q ter) debida a una translocación materna t(6;10)(q26;q24) balanceada. Academic Article uri icon

Overview

MeSH Major

  • Abnormalities, Multiple
  • Chromosome Aberrations
  • Chromosomes, Human, 6-12 and X
  • Translocation, Genetic
  • Trisomy

abstract

  • Authors have had the opportunity to study a patient affected by a malformative syndrome with severe motricity and mental retardation. Physical findings (namely: spacious forehead, flat and round face, small palpebral fissures, hypotonicity and growth retardation) are similar to the phenotype previously described in trisomy 10q. Chromosomal diagnosis failed until G, Q and R banding technique was applied. With this technique a partial 10q trisomy (q24 leads to q ter) due to a maternal translocation t(6:10)(q26;q24) was found.

publication date

  • August 1982

Research

keywords

  • Academic Article

Identity

Language

  • spa

PubMed ID

  • 7149479

Additional Document Info

start page

  • 125

end page

  • 9

volume

  • 17

number

  • 2