Proximal partial 5p trisomy resulting from a maternal (19;5) insertion

• Published in: American journal of medical genetics 1997-02, Vol.68 (4), p.476-480
• Main Authors: Lorda-Sánchez, Isabel, Urioste, Miguel, Villa, Amelia, Carrascosa, María del Carmen, Vásquez, Maria Socorro, Martínez, Andrés, Martínez-Frías, María Luisa
• Format: Article
• Language: English
• Subjects: 5p11-p13.3 duplication; Abdomen - pathology; Abnormalities, Multiple - genetics; Adult; Biological and medical sciences; Brain - pathology; chromosomal abnormality; Chromosome aberrations; Chromosomes, Human, Pair 5; complement components; DNA Transposable Elements; Ear - abnormalities; Face - abnormalities; Female; FISH; Foot Deformities, Congenital - genetics; Hand Deformities, Congenital - genetics; Humans; Hypertelorism - genetics; In Situ Hybridization, Fluorescence; Infant, Newborn; interchromosomal insertion; Karyotyping; Male; Medical genetics; Medical sciences; partial 5p trisomy; Pregnancy; Thorax - abnormalities; Trisomy
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19970211)68:4<476::AID-AJMG21>3.0.CO;2-O

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. Am. J. Med. Genet. 68:476–480, 1997. © 1997 Wiley‐Liss, Inc.