About the origin of the acrocentric part of non-acrocentric satellited chromosomes in humans

Mohammed Abdulazeez, Stefanie Kankel, T. Liehr
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Abstract

Variants in size of the acrocentric short arms (acro-ps) are normally not reported and considered as chromosomal heteromorphisms (CHMs) without any influence on the carrier’s phenotype. However, if acro-ps are translocated to ends of A-chromosomes (i.e. human chromosomes 1-22 and X or Y), those rearrangements are studied in more detail. The aim of the study: Here we characterized 11 healthy carriers of a non-acrocentric satellited chromosomes der(A)t(A;acro)(pter or qter;p1?1.2) to determine the frequency of chromosome 15p and 22p in such rearrangements. Materials and methods: 11 carriers of one (10 cases) or two (1 case) der(A)t(A;acro) were identified during routine cytogenetic analyses. They were originally referred due to infertility or due to a mentally retarded child with otherwise abnormal karyotype. Here derivative chromosomes were studied by fluorescence in situ hybridization applying probes D15Z1 (specific for 15p11.2) and D22Z4 (specific for 22p11.2). As there are no DNA-sequences available for 13p11.2, 14p11.2 and 21p11.2 these regions could not be tested. Results: D15Z1 sequences were identified in 1 out of 12 derivatives der(A)t(A;acro). D22Z1 could not be detected in any of the 11 remainder derivatives. However, only 3 of the 12 der(A)t(A;acro) had acro-ps large enough to potentially comprise sub-band p11.2. Conclusion: In contrast to der(Y)t(Y;acro)(q12;p1?1.2), where in at least 65% of the cases the acro-p part contains D15Z1 sequences, here it could be shown that in der(A)t(A;acro) 15p involvement can be substantiated much less frequently. Also, in none of the two groups D22Z4-sequences were detected in acro-p-parts yet. Besides, breakpoint of acro-pparts in der(A)t(A;acro) seem to be in ~75% of the cases distal from p11.2.
关于人类非顶心伴体染色体顶心部分的起源
顶中心短臂(acroo -ps)大小的变异通常未被报道,并被认为是染色体异型(CHMs),对携带者的表型没有任何影响。然而,如果acrops易位到a染色体的末端(即人类染色体1-22和X或Y),则对这些重排进行更详细的研究。本研究的目的是:在这里,我们对11个健康的非单中心卫星染色体der(a)t(a;acro)(pter或qter;p1 - 1.2)的携带者进行了特征分析,以确定染色体15p和22p在这种重排中的频率。材料和方法:在常规细胞遗传学分析中鉴定出1例(10例)或2例(1例)der(A)t(A;acro)携带者11例。他们最初是由于不孕症或由于智力迟钝的孩子与其他异常核型。本研究使用探针D15Z1 (15p11.2特异性)和D22Z4 (22p11.2特异性)对衍生染色体进行荧光原位杂交研究。由于没有13p11.2、14p11.2和21p11.2的dna序列,这些区域无法检测。结果:D15Z1序列在der(A)t(A;acro)的12个衍生物中鉴定出1个。D22Z1在其余11个衍生物中均未检测到。然而,12个der(A)t(A;acro)中只有3个具有足够大的acrops,可能包含子带p11.2。结论:与der(Y)t(Y;acro)(q12;p1?1.2)相比,在至少65%的病例中,acrop部分包含D15Z1序列,这里可以证明,der(A)t(A;acro) 15p受累的频率要低得多。此外,在两组中均未检测到跨p部分的d22z4序列。此外,在图(A)和图(A;acro)中,似乎有75%的病例在p11.2远端出现跨部断点。
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CiteScore
1.50
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