Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature.

Autor: Laus AC; Department of Genetics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil., Baratela WA, Laureano LA, Santos SA, Huber J, Ramos ES, Rebelo CC, Squire JA, Martelli L
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2012 Apr; Vol. 158A (4), pp. 821-7. Date of Electronic Publication: 2012 Feb 21.
DOI: 10.1002/ajmg.a.32988
Abstrakt: Trisomy 16q is a clinically recognizable entity presenting with a wide spectrum of abnormalities. Only five infants with a diagnosis of partial trisomy 16q13 → qter have been previously reported, and all died during the first year of life. We report the clinical and molecular cytogenetic findings in a patient with trisomy 16q13 → qter due to the presence of a supernumerary marker chromosome (SMC). The child presented with microcephaly, ambiguous genitalia, cardiac malformations and dysmorphic features. Cytogenetic investigation using GTG-banding, spectral karyotyping (SKY) and fluorescence in situ hybridization analyses revealed an SMC of maternal origin with karyotype der(15)t(15;16)(q13;q13). Specific genotype-phenotype correlations among different segments of the 16q region cannot yet be defined. We suggest that the involvement of the entire region spanning from 16q11 to 16q22 is necessary for the characteristic phenotype of the trisomy 16q.
(Copyright © 2012 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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