Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.
We present a case with a partial duplication 5p11-->5p13.3 resulting from a maternal ins (19,5)(p11;p11-p13.3). The diagnosis was confirmed by FISH and complement component determinations. The clinical picture was similar to those described in patients with complete duplication of the short arm and in some patients with partial 5p duplications, affecting at least band 5p13. A special significance of band 5p13 in the clinical severity of 5p duplications is discussed.
Lorda-Sánchez
I
I
Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Urioste
M
M
Villa
A
A
Carrascosa
M C
MC
Vázquez
M S
MS
Martínez
A
A
Martínez-Frías
M L
ML
D000005:Abdomen / Q000473:pathology; D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000473:pathology; D002895:Chromosomes, Human, Pair 5; D004251:DNA Transposable Elements; D004423:Ear / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D013909:Thorax / Q000002:abnormalities; D014314:Trisomy
D004251:DNA Transposable Elements