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Maternal transmission of ring chromosome 21

✍ Scribed by Ingo Kennerknecht; Gotthold Barbi; Walther Vogel

Publisher: Springer
Year: 1990
Tongue: English
Weight: 527 KB
Volume: 86
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00205185

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✦ Synopsis

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.

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