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Article

X/autosome translocation in three generations ascertained through an infant with trisomy 16p due to failure of spreading of X-inactivation.

American journal of medical genetics - 11 Jan 1996

Preis W, Barbi G, Liptay S, Kennerknecht I, Schwemmle S, Pohlandt F

Abstract excerpt

We report on a reciprocal translocation t(X;16)(q28;p12) detected in a newborn girl with clinical manifestations of partial trisomy 16p. A balanced translocation was found in the mother and in the maternal grandmother. Replication studies on lymphocytes and fibroblasts showed nonrandom X-inactivation in both the patient and her mother. In the mother, the derivative X (der(X)) was active, whereas the normal X was...

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Share to Chromosomes, Human, Pair 16
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8669435
DOI: 10.1002/(SICI)1096-8628(19960111)61:2<117::AID-AJMG2>3.0.CO;2-U

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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