Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings

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).…”

“…B3GAT1 has been a candidate gene for schizophrenia (Jeffries et al, 2003;Kähler et al, 2011). Mental retardation has been described in cases with an unbalanced X-autosome translocation involving the long arm or short arm of the X chromosome (Chen et al, 2006;Kayhan et al, 2013). Chen et al (2006) reported primary ovarian failure in a 33-year-old mentally retarded woman with a de novo unbalanced X-autosome translocation and a karyotype of 46,X,der(X)t(X;5)(q27.3;q32).…”

“…Chen et al (2006) reported primary ovarian failure in a 33-year-old mentally retarded woman with a de novo unbalanced X-autosome translocation and a karyotype of 46,X,der(X)t(X;5)(q27.3;q32). Kayhan et al (2013) reported facial dysmorphism, growth retardation, mental retardation, developmental delay, speech delay, microcephaly, hypotonia, and vertebral, cardiac, renal and genital abnormalities in a 19-year-old female with a de novo unbalanced X-autosome translocation and a karyotype of 46,X,der(X)(Xqter → Xp22.33::11q13.5 → 11qter). Patients with an unbalanced X-autosome translocation may present with disproportionally mild phenotype due to inactivation of the der(X) by skewed inactivation (Blennow and Sahlén, 1999;Mononen et al, 2003;Sharp et al, 2001;White et al, 1998).…”

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.…”

“…For example, Emanuel syndrome is the result of partial trisomy of chromosome 11q23‐qter, combined with duplication of 22q10‐q11 [Choudhary et al, ; Ohye et al, ]. Partial trisomy of 11q without a copy number change of another chromosome is very rare [Zarate et al, ; Gohring et al, ; Burnside et al, ; Kayhan et al, ]. Given the rarity of this syndrome and minimal use of high‐resolution techniques, such as array CGH, the genotype‐phenotype correlation of partial trisomy of 11q has been poorly defined to date.…”