1996
DOI: 10.1111/j.1399-0004.1996.tb03288.x
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De novo 46,XX, dir dup (11)(q13.3→q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia

Abstract: A 31‐year‐old female is reported with mild to moderate mental retardation, facial dysmorphy, congenital cardiopathy, and mild thrombocytopenia as the most important clinical findings. Chromosome analysis in lymphocytes showed a de novo dir dup (11)(q13.3→14.2), by both G‐banding and FISH techniques. Previously reported constitutional duplications of 11q are mostly the result of unbalanced translocations involving chromosome 11q, and are associated with a partial monosomy or trisomy of the translocation partner… Show more

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Cited by 21 publications
(33 citation statements)
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“…This implies that the phenotype is probably caused by the duplication of the segment distal to 11q22. The other three cases involve duplications that overlap with our patient's [Legius et al, 1996;Zhao et al, 2003;Yelavarthi and Zunich, 2004] (Table I). These cases also have findings in common, including minor dysmorphic features and mental retardation.…”
Section: Discussionmentioning
confidence: 85%
See 1 more Smart Citation
“…This implies that the phenotype is probably caused by the duplication of the segment distal to 11q22. The other three cases involve duplications that overlap with our patient's [Legius et al, 1996;Zhao et al, 2003;Yelavarthi and Zunich, 2004] (Table I). These cases also have findings in common, including minor dysmorphic features and mental retardation.…”
Section: Discussionmentioning
confidence: 85%
“…A total of seven cases of isolated 11q duplication with no other chromosomal involvement have been reported. The affected segments have been 11q13.3 to 11q14.2, [Legius et al, 1996], 11q13.5 to 11q21 [Yelavarthi and Zunich, 2004], 11q23 to qter [Pfeiffer and Schutz, 1993], 11q22 to 11q24.1 [de Diesmulders and Engelen, 1996], 11q23.3 to 11q24 [Forsythe et al, 1988], 11q23.3 to 11q24? [Delobel et al, 1998] and 11q13 to 11q25 [Zhao et al, 2003].…”
Section: Introductionmentioning
confidence: 99%
“…Isolated duplications involving 11q have been described, but the duplications described in only three reports have overlap with the duplication 11q14.1 ! 11q22.1 present in our family [Legius et al, 1996;de Die-Smulders and Engelen, 1996;Yelavarthi and Zunich, 2004]. The patient described in the first report had an overlap duplication of 11q22 !…”
Section: Discussionmentioning
confidence: 89%
“…Of all segmental trisomy 11q cases described to date, including those with 'pure' partial trisomy 11q (Pfeiffer and Schutz, 1993;de Die-Smulders and Engelen, 1996;Legius et al, 1996;Smeets et al, 1997;Delobel et al, 1998;Zhao et al, 2003;Yelavarthi and Zunich, 2004), only those involving translocation of the 11q segment to 5p are associated with an abnormal cry. This suggests that the altered cry in der(5)t(5p;11q) individuals may be independent of 11q gene dosage and is directly related to partial 5p deletion.…”
Section: Discussionmentioning
confidence: 99%
“…Comparison of clinical features noted in isolated partial trisomy 11q (Pfeiffer and Schutz, 1993;de Die-Smulders and Engelen, 1996;Legius et al, 1996;Smeets et al, 1997;Delobel et al, 1998;Zhao et al, 2003;Yelavarthi and Zunich, 2004), the five previously reported individuals with der (5) Zhao et al, 2003), our der(5)t(5;11)(p15.3;q22) patient, and Cri du chat syndrome ( e Niebuhr, 1978;Wilkins et al, 1983;Mainardi et al, 2001). Features present in more than a single patient with trisomy 11q are listed.…”
Section: Tablementioning
confidence: 99%