Primary ovarian failure in a mentally retarded woman with a de novo unbalanced X;autosome translocation

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

“…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).…”

“…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). 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 unbalanced X-autosome translocations are at risk for X-linked autosomal dominant disorders, partial trisomy of the involved autosome, ovarian dysfunctions and/or stigmata of Turner syndrome stigmata (Chen et al, 2006). Here, we report a 16-year-old girl with a de novo unbalanced X-autosome translocation, an Xq interstitial segmental duplication and a karyotype of 46,X,der(X) t(X;11)(q27.2; q24.3)dup(X)(q27.1q22.3).…”

5q35 duplication and Hunter–McAlpine syndrome: Missing the link

“…In their recent report on a child with 5q34 → q35 duplication, Kariminejad et al 2009] refer to 39 comparable patients but omit at least 16 other reports concerning distal 5q duplications [Adès et al, 1993; Nakayama et al, 1993; De Albuquerque Coêlho et al, 1996; Kriplani et al, 1998; Kotzot et al, 2000; Vogels et al, 2000; Sanchez‐Garcia et al, 2001; Carbonell Pérez et al, 2004; Bocian et al, 2005; Hunter et al, 2005; Koolen et al, 2006; Chen et al, 2006a,b; Kirchhoff et al, 2007; Buysse et al, 2008; Utine et al, 2008]. Of utmost relevance is the lack of any mention to the close relationship or even sameness of this chromosomal entity with the syndrome first delineated in six affected members of a Canadian family and assumed to result from either an autosomal dominant allele or a chromosomal imbalance [Hunter et al, 1977]; in fact, it was recently shown that the patients in this family had a cryptic 5q35 duplication onto 13p and were connected through healthy carriers of a 5;13 translocation [Hunter et al, 2005].…”

Algorithmic Approach for Methyl-CpG Binding Protein 2 (MECP2) Gene Testing in Patients With Neurodevelopmental Disabilities

“…Interestingly, female patients who are monosomy for the distal portion of Xq typically have a normal physical phenotype but often have premature ovarian failure. [66][67][68][69][70][71] These deletions typically span the Xq26-Xqter regions, and the gene responsible for premature ovarian failure has now been localized between the Xq27.2/Xq27.3 and Xqter regions. 72 Presumably, because the entire MECP2 gene and its regulatory elements are absent, these mega-deletions do not result in the Rett syndrome phenotype associated with more localized, smaller-scale MECP2 deletions that lead to an altered MeCP2 protein product.…”