Adjacent 2 Meiotic Disjunction. Report of a Case Resulting from a Familial 13q;15q Balanced Reciprocal Translocation and Review of the Literature

Overview

Journal Hum Genet

Specialty Genetics

Date 1981 Jan 1

PMID 7035334

Citations 5

Authors

D P Duckett

S H Roberts

Affiliations

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Abstract

An abnormal short-lived female infant with almost complete trisomy 13 (pter leads to q32 or 33) and partial monosomy 15 (pter leads to q14 or 15) resulting from an adjacent 2 meiotic disjunction of a paternal reciprocal translocation is described. Cases with monosomy of chromosome 15 material are reviewed. It appears likely that monosomy of an interstitial long arm segment, approximating to 15q21 leads to 24, imparts the lethality associated with the full monosomic condition. Adjacent 2 disjunction in man has been further characterised by reviewing the literature.

Citing Articles

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.

Roberti M, Surace C, Digilio M, DElia G, Sirleto P, Capolino R Orphanet J Rare Dis. 2011; 6:17.

PMID: 21504564 PMC: 3096895. DOI: 10.1186/1750-1172-6-17.

Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations.

Cohen O, Cans C, Mermet M, Demongeot J, Jalbert P Hum Genet. 1994; 93(2):188-94.

PMID: 8112744 DOI: 10.1007/BF00210608.

Proximal 15q monosomy.

Duckett D J Med Genet. 1982; 19(5):393-4.

PMID: 7143400 PMC: 1048937. DOI: 10.1136/jmg.19.5.393-a.

Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Mattei M, Souiah N, Mattei J Hum Genet. 1984; 66(4):313-34.

PMID: 6373566 DOI: 10.1007/BF00287636.

Unbalanced reciprocal translocations in cases of Prader-Willi syndrome.

Duckett D, Roberts S, Davies P Hum Genet. 1984; 67(2):156-61.

PMID: 6336319 DOI: 10.1007/BF00272991.

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