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Ann Genet. 1991;34(2):85-9.

Interstitial deletion of 16(q13q22) in a newborn resulting from a paternal insertional translocation.

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  • 1Institut für Humangenetik, Erlangen, Germany.

Erratum in

  • Ann Genet 1992;35(1):32.


A dysmorphic newborn showed an interstitial deletion of the long arm of a chromosome 16 due to a balanced paternal insertional translocation 46,XY,ins(14;16)(q23;q13q22). The insertion was confirmed by chromosomal in situ suppression (CISS-) hybridization. Clinical features considered to be typical for a 16q- phenotype are demonstrated in this patient. Similar observations described in the literature are compared and discussed with reference to the phenocritical region.

[PubMed - indexed for MEDLINE]
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