Partial 11q trisomy syndrome

Abstract

The syndrome caused by partial trisomy for 11q is reviewed on the basis of a patient of our own and 20 cases (including a stillbirth) from the literature. The main symptoms are presented in Tables 1 and 2. The syndrome can be suspected when, in addition to mental retardation, the following characteristics are present: short nose, long philtrum, micrognathia, retracted lower lip, and micropenis in males. In 15 families, the mother was a balanced translocation carrier and in four the father. The translocation had arisen de novo in two patients. The chromosome number was 46 in 13 affected individuals (including the stillbirth) and 47 in eight. In seven of the latter patients the other translocation chromosome was 22, and in one, chromosome 9. The breakpoints on 11q ranged from 11q121 to 11q232 (Fig. 5). There is no apparent correlation between the length of the trisomic segment and the number or severity of the symptoms (Table 2). This could be explained by assuming that most, if not all, symptoms are caused by trisomy for the Q-dark region distal to 11q232, whereas trisomy for the rest of the 11q up to q121 has few phenotypic effects. These observations support the idea that Q-dark segments, and especially certain hot spots, have a high gene density in contrast with Q-brighter regions.

Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21)

“…Francke et al [1977] from their analysis of 13 published cases with 11q trisomy suggested that 11q partial trisomy causes a specific well recognized duplication 11 (q21 $ q23 to qter) syndrome. Pihko et al [1981] in their review of 21 cases with partial 11q trisomy confirmed this observation. They have suggested that 11q partial syndrome can be suspected when the patient have a short nose, long philtrum, low set ears, micrognathia, retracted lower lip, clavicular defect, and micropenis in males, in addition to mental retardation.…”

“…Although constitutional partial trisomy is well described in the literature [Francke et al, 1977;Pihko et al, 1981], this partial trisomy is always accompanied with a partial monosomy of the other chromosome involved in the translocation. Francke et al [1977] from their analysis of 13 published cases with 11q trisomy suggested that 11q partial trisomy causes a specific well recognized duplication 11 (q21 $ q23 to qter) syndrome.…”

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature

“…However, duplications have been reported much less frequently for segments from 11q13.3 to 11q23 [Schinzel, 2001]. In most of the reported cases other chromosomes have been involved making it difficult to determine the effect of the 11q partial trisomy [Lurie et al, 1979;Pihko et al, 1981;de France et al, 1984;Zhao et al, 2003]. A total of seven cases of isolated 11q duplication with no other chromosomal involvement have been reported.…”

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

“…11,[19][20][21][22][23] Similarly, a shorter segment involving 11q13 → qter band found in a RCT has been observed. [24][25][26] Meiotic segregation pattern To identify the various possible genetic imbalances that can be produced by carriers of chromosomal translocations, the meiotic segregation patterns in sperm cells can be evaluated. To date, the meiotic segregation patterns in sperm cells from 4200 different RCTs have been studied.…”