Partial Trisomy 16q Resulting from Maternal Translocation

Overview

Journal Hum Genet

Specialty Genetics

Date 1979 Jun 19

PMID 468254

Citations 7

Authors

P Balestrazzi

G Giovannelli

L LANDUCCI RUBINI

B Dallapiccola

Affiliations

Soon will be listed here.

Abstract

A 3 1/2-year-old male with partial trisomy of the long arm of chromosome 16 resulting from a maternal balanced translocation is described. Karyotype: 46,XY,--22,der(22),t(16;22)(q21;p12)mat.

Citing Articles

Partial Trisomy 16q21-q24.3 with Novel Cardiac Manifestation of Left Ventricular Noncompaction Cardiomyopathy: A Case Report.

Dwivedi A, Kumar V, Ramamurthy H J Pediatr Genet. 2021; 10(4):326-330.

PMID: 34849281 PMC: 8608484. DOI: 10.1055/s-0040-1714362.

A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.

Manor J, Dinu D, Azamian M, Bi W, Darilek S, Lalani S Am J Med Genet A. 2021; 185(10):2903-2912.

PMID: 34061437 PMC: 9082733. DOI: 10.1002/ajmg.a.62368.

Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report.

Yue F, Jiang Y, Pan Y, Li L, Li L, Liu R Exp Ther Med. 2019; 18(2):1267-1275.

PMID: 31363371 PMC: 6614715. DOI: 10.3892/etm.2019.7695.

Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.

Mishra R, Paththinige C, Sirisena N, Nanayakkara S, Kariyawasam U, Dissanayake V BMC Pediatr. 2018; 18(1):4.

PMID: 29310616 PMC: 5759277. DOI: 10.1186/s12887-017-0980-z.

Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.

Houlston R, Renshaw R, James R, Ironton R, Temple I J Med Genet. 1994; 31(11):884-7.

PMID: 7853376 PMC: 1016665. DOI: 10.1136/jmg.31.11.884.

References

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Schmickel R, POZNANSKI A, Himebaugh J . 16q trisomy in a family with a balanced 15/16 translocation. Birth Defects Orig Artic Ser. 1975; 11(5):229-36. View

Eriksson B, Fraccaro M, Hulten M, LINDSTEN J, THOREN C, TIEPOLO L . Structural abnormalities of chromosome 18. II. Two familial translocations, B-18 and 16-18, ascertained through unbalanced forms. Ann Genet. 1971; 14(4):281-90. View

Yunis E, Gonzalez J, Torres de Caballero O . Partial trisomy 16q-. Hum Genet. 1977; 38(3):347-50. DOI: 10.1007/BF00402163. View

Fryns J, Melchoir S, Jaeken J, Van Den Berghe H . Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21). Hum Genet. 1977; 38(3):343-6. DOI: 10.1007/BF00402162. View