Maternal Transmission of Ring Chromosome 21

Overview

Journal Hum Genet

Specialty Genetics

Date 1990 Nov 1

PMID 2253944

Citations 3

Authors

I Kennerknecht

G Barbi

W Vogel

Affiliations

Soon will be listed here.

Abstract

A psychomotor-retarded infant with minor dysmorphic signs and a karyotype 46,XY,r(21)mat in lymphocytes is reported. The mother is phenotypically normal but shows the same unstable r(21). This is another case demonstrating that a chromosomal aberration does not necessarily lead to infertility by meiotic failure. Nevertheless, segregation of ring chromosomes is problematic for two reasons: mitotic problems of the ring structure itself and synaptic difficulties during the pachytene stage.

Citing Articles

The normality of sperm in an infertile man with ring chromosome 15: a case report.

Nishikawa K, Itoi F, Nagahara M, Jose M, Matsunaga A, Ueda J J Assist Reprod Genet. 2017; 35(2):251-256.

PMID: 29063501 PMC: 5845033. DOI: 10.1007/s10815-017-1061-9.

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

Plomp A, Engelen J, Albrechts J, de Die-Smulders C, Hamers A J Med Genet. 1998; 35(7):604-8.

PMID: 9678708 PMC: 1051374. DOI: 10.1136/jmg.35.7.604.

Inherited ring chromosomes: an analysis of published cases.

Kosztolanyi G, Mehes K, Hook E Hum Genet. 1991; 87(3):320-4.

PMID: 1864607 DOI: 10.1007/BF00200912.

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