‘Pure’ partial trisomy 11q (11q23.1→11qter)

Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2–qter deletion, 11q24.3–qter duplication and Xq22.3–q27.1 duplication in a girl with primary amenorrhea and mental retardation

“…Partial trisomy 11q involving 11q23-q25 has been associated with clinical features of intellectual disability, developmental delay, microcephaly, facial dysmorphism, epilepsy, and central nervous system, cardiac and genitourinary abnormalities (Ben-Abdallah- Bouhjar et al, 2013;Kayhan et al, 2013;Pfeiffer and Schütz, 1993;Utine et al, 2005;Zhao et al, 2003;Zimberg-Bossira et al, 2011). To date, only three cases with pure partial trisomy 11q involving 11q24.3-qter have been reported (Pfeiffer and Schütz, 1993;Zhao et al, 2003;Zimberg-Bossira et al, 2011). Pfeiffer and Schütz (1993) reported a tandem duplication of 11q23-qter in a 7-month-old boy with mental retardation, developmental delay, microcephaly, facial dysmorphism, atrial septal defect, short penis, shallow scrotum and dilation of lateral ventricles.…”

A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21

“…The most frequent breakpoint on chromosome 11 described by these studies was the same as in our case, at 11q23. However, it should be noted that breakpoints might lead to interruptions of specific gene loci, and may vary between patients, resulting in different disease phenotypes (Zimberg-Bossira et al, 2011). We compared a series of partial duplications of 11q23 described in eight cases, as previously published (Table 2).…”

“…We compared a series of partial duplications of 11q23 described in eight cases, as previously published (Table 2). This was done to identify common genetic features that can explain the occurrence of severe congenital malformations including intellectual disability, growth retardation, dysmorphic features, abnormal muscle tone, brain abnormalities, neural tube defects, and cardiac and urinary tract abnormalities in patients with the partial trisomy 11q23 syndrome (Forsythe et al, 1988;Pfeiffer and Schütz, 1993;Smeets et al, 1997;Delobel et al, 1998;Klaassens et al, 2006;Partida-Pérez et al, 2006;Burnside et al, 2009;Zimberg-Bossira et al, 2011). The highly variable clinical features of trisomy 11q23 syndrome can be attributed to the different sizes of the duplicated region (Yelavarthi and Zunich, 2004;Klaassens et al, 2006).…”

Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation

“…Since the first description of partial trisomy of 11q in 1977, partial trisomy of the long arm of chromosome 11 has remained a rare duplication syndrome [Francke et al, ]. As indicated in most previously reported cases, partial trisomy 11q is associated with partial or total monosomy of another chromosome derived from an unaffected parent with balanced translocation [Pihko et al, ; Yelavarthi and Zunich, ; Klaassens et al, ; Burnside et al, ; Zimberg‐Bossira et al, ; Ben‐Abdallah‐Bouhjar et al, ; Kayhan et al, ]. The duplication region at breakage points, such as 11q13‐qter, 11q21‐qter, and 11q23‐qter, and the presence of other chromosome deletions or duplication determine the main clinical features of partial trisomy 11q.…”