PMID: 429002Jan 19, 1979Paper

Partial monosomy of the long arm of chromosome 16: a distinct clinical entity?

Human Genetics
J P FrynsH Van den Berghe

Abstract

A 7-month-old male child with a de novo, seemingly balanced reciprocal 5p/16q translocation and karyotype 46,XY,t(5;16) (p14;q21), resulting from a maternal meiotic error, is described. The clinical findings in this patient are strikingly similar to those in the only patient with partial deletion 16q hitherto described, [del(16)(q21)], indicating that during the 5p/16q rearrangement, 16q material was lost and suggesting that partial or total deletion of the long arm of chromosome 16 distal to band q21 is accompanied by a distinct clinical phenotype.

References

Oct 14, 1977·Human Genetics·E YunisO M Torres de Caballero
Oct 28, 1976·Human Genetics·T BauknechtW Vogel
Feb 29, 1976·Human Genetics·M R CreasyE D Alberman
Jul 30, 1971·Nature·F Giannelli, J L Hamerton

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Citations

Jan 1, 1983·Human Genetics·C C LinF F Snyder
Jun 1, 1992·American Journal of Medical Genetics·M FujiwaraM Kamada
Jan 1, 1987·American Journal of Medical Genetics·V IonasescuW Smith
Dec 1, 1990·American Journal of Medical Genetics·A C CasamassimaL R Shapiro
Dec 1, 1990·American Journal of Medical Genetics·J P Fryns
Jan 1, 1980·Human Genetics·A P AmaroseS Csaszar
Jan 1, 1981·Human Genetics·L Neidengard, R S Sparkes
May 30, 2019·American Journal of Medical Genetics. Part a·Sarah AbdullahRoberto Mendoza-Londono
May 1, 1988·Clinical Genetics·K NaritomiK Hirayama

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