Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations
Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations
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DOI：
10.1136/jmg.40.9.690
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发表时间：
2003-09-01
影响因子：
4
通讯作者：
Mattei, MG
中科院分区：
文献类型：
--
作者：
Luciani, JJ;de Mas, P;Mattei, MG
方法受试者：我们的研究对象包括33名患有部分22q13单体的患者，排除了所有涉及除22号染色体以外的任何其他染色体的常染色质丢失或获得的重排。有17例患者有r(22)染色体(例1至17)，其中1例已被报告(例214)。12例患者存在简单的22q13末端缺失(例18~29)。4名患者存在涉及顶端着丝点短臂的不平衡易位(30至33例)，被认为是“纯”22q13单体。其中1例(30例)为父系平衡易位分离不良所致，核型为46，XX，der(22)t(14；22)(p11；q13)PAT；2例(31和33)为新发易位，涉及22q13条带和未鉴定的端粒短臂，核型为46，XX，der(22)t(22；acro)(q13；p11)。例32为新发串联易位，涉及15号染色体22q13带和短臂，核型为45，XY，J22，J15，+der(22pterR22q13：：15p12R15qter)。对所有患者采用相同的标准进行临床检查。父母接受了关于他们孩子发展和行为的标准问卷调查，结果数据被用来评估孩子的残疾。对于所有患者，怀孕和出生数据都没有显示出显著的事件。患者的年龄和性别以及严重程度的主要临床体征评分(+，++，+)如表1所示。根据标准程序制备患者的中期传播，并对每个过程进行至少50个中期分析，以检测任何嵌合体。通过使用从Sanger Institute(WWW.桑格。交流电。和来自Invitgen的粘粒克隆(Invitgen-Life Technologies，CEnergy-Pontoise，法国)。所有这些探针，其相对顺序是通过在
METHODS Subjects Our study involved 33 patients with a ‘‘pure’’partial 22q13 monosomy, with exclusion of all rearrangements involving loss or gain of euchromatic material from any other chromosome than number 22. There were 17 patients with an r (22) chromosome (cases 1 to 17), one of whom has already been reported (case 214). Twelve patients had a simple terminal 22q13 deletion (cases 18 to 29). Four patients had an unbalanced translocation involving an acrocentric short arm (cases 30 to 33) and were considered as ‘‘pure’’22q13 monosomies. Among these translocations, one (case 30) resulted from the malsegregation of a balanced paternal translocation and the karyotype was 46, XX, der (22) t (14; 22)(p11; q13) pat; two (cases 31 and 33) were de novo translocations involving the 22q13 band and the short arm of an unidentified acrocentric, with the karyotype 46, XX, der (22) t (22; acro)(q13; p11). Case 32 was a de novo tandem translocation involving the 22q13 band and the short arm of a chromosome 15, with the karyotype 45, XY, J22, J15,+ der (22pterR22q13:: 15p12R15qter). Clinical examination of the patients was undertaken using the same criteria for all. The parents were interviewed with a standard questionnaire about their child’s development and behaviour, and the resulting data were used to assess the child’s disability. For all patients, pregnancy and birth data showed no remarkable events. The age and sex of the patients are reported in table 1, as well as the main clinical signs scored for degree of severity (+,++,+++).Procedures Metaphase spreads from the patients were prepared according to standard procedures and at least 50 metaphases were analysed for each of them, in order to detect any mosaicism. Characterisation of the deleted material was done by fluorescence in situ hybridisation (FISH) using BAC and PAC clones obtained from the Sanger Institute (www. sanger. ac. uk), and cosmid clones from Invitrogen (Invitrogen-Life Technologies, Cergy-Pontoise, France). All these probes, for which the relative order was determined by searching in