Duplication of 5q11.2→q13.1 from a familial (5;20) balanced insertion

A 2-year-old boy with gross motor delay and few minor anomalies has a pure duplication of a small segment of chromosome 5q11.2---q13.1. A balanced insertion of this 5q segment into chromosome 20q proximal to the centromere has been found in his father, uncle, and paternal grandmother.

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Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics 1989-06, Vol.33 (2), p.220-223
Hauptverfasser:	YIP, M.-Y, HANSON, N, WILSON, M, PURVIS-SMITH, S, LAM-PO-TANG, P. R. L
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Biological and medical sciences Child, Preschool Chromosome aberrations Chromosome Banding Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 5 Dermatoglyphics Humans Karyotyping Male Medical genetics Medical sciences Multigene Family Pedigree Psychomotor Disorders - genetics Translocation, Genetic
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Beschreibung
Zusammenfassung:	A 2-year-old boy with gross motor delay and few minor anomalies has a pure duplication of a small segment of chromosome 5q11.2---q13.1. A balanced insertion of this 5q segment into chromosome 20q proximal to the centromere has been found in his father, uncle, and paternal grandmother.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320330215