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

Abstract

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.

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

“…The segment that is deleted in 5p monosomy patients involves the critical region for the syndrome at 5p15.2 to 5p15.3 (Niebuhr 1978;Overhauser et al 1986Overhauser et al , 1994. On the other hand, the duplicated segment of 5p does not involve the critical region of the 5p trisomy syndrome, mapped to 5p10-5p13.1 (Lorda-Sanchez et al 1997;Avansino et al 1999;D'Amato Sizonenko et al 2002). The patients with monosomy 5p of the family described here presented the main features of the cri-du-chat syndrome: cat-like cry, microcephaly, severe mental retardation, depressed nasal bridge, hypertelorism, epicanthic folds, downward slanted palpebral Wssures, and muscular hypotonia.…”

“…The clinical manifestations depend mainly on the 5p segments involved in the deletion (Church et al 1995;Mainardi et al 2001) or duplication (Brimblecombe et al 1977;Carnevale et al 1982;Lorda-Sanchez et al 1997;Velagaleti et al 2000). The most important clinical features in monosomy 5p are a high-pitched cat-like cry at birth, facial dysmorphism, microcephaly and severe psychomotor and mental retardation (Mainardi et al 2006).…”

“…The most frequent 5p duplications involve 5pter to 5p13 and result in variable clinical features including mental retardation, dolicocephaly, prominent occiput, round face, downward slating palpebral Wssures, strabismus, low-set ears, short and bulbous nose, long philtrum, high-arched palate, macroglossia and small jaw (Brimblecombe et al 1977;Zabel et al 1978;Vowles et al 1984). Partial 5p trisomy is usually due to partial duplications inherited from translocation or inversion carriers and, less frequently, due to insertions or marker chromosomes (Lorda-Sanchez et al 1997;Avansino et al 1999). The patients may show duplications distal to 5p13.3 (Chia et al 1987;Webb et al 1988;Zenger-Hain et al 1993), complete 5p duplication (Reichenbach et al 1999;Velagaleti et al 2000;Grosso et al 2002), and duplication of the 5p proximal region encompassing 5p10 to 5p13 (Lorda-Sanchez et al 1997;Avansino et al 1999;D'Amato Sizonenko et al 2002).…”

“…Partial 5p trisomy is usually due to partial duplications inherited from translocation or inversion carriers and, less frequently, due to insertions or marker chromosomes (Lorda-Sanchez et al 1997;Avansino et al 1999). The patients may show duplications distal to 5p13.3 (Chia et al 1987;Webb et al 1988;Zenger-Hain et al 1993), complete 5p duplication (Reichenbach et al 1999;Velagaleti et al 2000;Grosso et al 2002), and duplication of the 5p proximal region encompassing 5p10 to 5p13 (Lorda-Sanchez et al 1997;Avansino et al 1999;D'Amato Sizonenko et al 2002). Literature shows that patients with duplications distal to 5p13.3 (Baialardo et al 2003;Cervera et al 2005) present a relatively milder phenotype compared to complete 5p duplications (Reichenbach et al 1999;Velagaleti et al 2000;Grosso et al 2002) and to duplications of the proximal regions 5p11-5p13.2, suggesting a critical region between 5p10 and 5p13.1 (Lorda-Sanchez et al 1997;Avansino et al 1999;D'Amato Sizonenko et al 2002).…”

Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5)

“…Earlier studies of karyotypically visible duplications generated a clinical picture that included developmental delay, seizures, brain abnormalities, heart defects, hypotonia, clubfeet, and respiratory difficulties [Avansino et al, 1999;Cervera et al, 2005;LordaSanchez et al, 1997;Loscalzo et al, 2008;Rethore et al, 1989;Stankiewicz et al, 2000;Valcarcel et al, 1983]. Dysmorphic features included macrocephaly, frontal bossing, micrognathia, flat nasal bridge, apparent hypertelorism, and dysplastic ears [Avansino et al, 1999;Cervera et al, 2005;Lorda-Sanchez et al, 1997;Loscalzo et al, 2008;Rethore et al, 1989;Stankiewicz et al, 2000;Valcarcel et al, 1983]. The extent of these duplications ranged from the centromere of chromosome 5 to the telomere of the short arm, with the majority containing multiple sub-bands.…”