Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome

Three families are reported who have a translocation involving 4p16.3. Nine subjects are described with the clinical features of the Pitt-Rogers-Danks (PRD) syndrome confirming pre- and postnatal growth failure, microcephaly, severe mental retardation, seizures, and a distinctive facial appearance;...

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Bibliographic Details
Published in:Journal of medical genetics 1997-09, Vol.34 (9), p.719-728
Main Authors: Partington, M W, Fagan, K, Soubjaki, V, Turner, G
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Adult
Biological and medical sciences
Child
Child, Preschool
Chromosomes, Human, Pair 4
Complex syndromes
Diseases in Twins
Female
Gene Deletion
Genetic Markers
Growth Disorders - genetics
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Intellectual Disability - genetics
Male
Medical genetics
Medical sciences
Middle Aged
Pedigree
Pregnancy
Protein-Tyrosine Kinases
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Fibroblast Growth Factor - genetics
Translocation, Genetic
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Summary:Three families are reported who have a translocation involving 4p16.3. Nine subjects are described with the clinical features of the Pitt-Rogers-Danks (PRD) syndrome confirming pre- and postnatal growth failure, microcephaly, severe mental retardation, seizures, and a distinctive facial appearance; a deletion of 4p16.3 was seen in all eight patients studied with fluorescence in situ hybridisation (FISH). Eleven subjects had a new syndrome with physical overgrowth, heavy facial features, and mild to moderate mental handicap; a duplication of the chromosome region 4p16.3 was found in the four subjects studied. It is suggested that the growth abnormalities in these two families may be explained by a dosage effect of the fibroblast growth factor receptor gene 3 (FGFR3), which is located at 4p16.3, that is, a single dose leads to growth failure and a triple dose to physical overgrowth. We describe the molecular mapping of the translocation breakpoint and define it to within locus D4S43.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.34.9.719