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Molecular and cytogenetic analysis of a familial microdeletion of Xq.

作者信息

Wells S, Mould S, Robins D, Robinson D, Jacobs P

机构信息

Wessex Regional Genetics Laboratory, General Hospital, Salisbury.

出版信息

J Med Genet. 1991 Mar;28(3):163-6. doi: 10.1136/jmg.28.3.163.

DOI:10.1136/jmg.28.3.163
PMID:1675684
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016798/
Abstract

Cytogenetic analysis of a male infant referred for poor neurological development and failure to thrive showed a microdeletion of the X chromosome, his karyotype being 46,Y,del(X)(pter----q21.1:: q21.2----qter). His mother and grandmother were also found to carry the deletion. DNA probes were used to define the deletion molecularly and it was shown to span intervals 2 to 6 of Cremers et al, a portion of Xq that contains the TCD gene and genes whose absence is associated with deafness and mental retardation. RFLP analysis together with X inactivation studies using the probe M27 beta verified the carrier status of the female relatives and showed non-random X inactivation in the heterozygous females.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c2b9/1016798/65dd420de169/jmedgene00029-0023-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c2b9/1016798/e84b0f632434/jmedgene00029-0022-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c2b9/1016798/65dd420de169/jmedgene00029-0023-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c2b9/1016798/e84b0f632434/jmedgene00029-0022-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c2b9/1016798/65dd420de169/jmedgene00029-0023-a.jpg

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本文引用的文献

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Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother.一名智力发育迟缓男孩及其正常母亲的X染色体长臂“关键区域”存在间质性缺失。
Hum Genet. 1983;64(2):196-9. doi: 10.1007/BF00327127.
2
Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.一个患有X染色体缺失的家族中的脉络膜缺损、先天性耳聋和智力发育迟缓。
Ophthalmic Paediatr Genet. 1987 Nov;8(3):139-43. doi: 10.3109/13816818709031459.
3
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.
在影像学正常和异常的家系中，X连锁耳聋基因与Xq21处三个微卫星重复序列紧密连锁。
J Med Genet. 1994 Dec;31(12):916-21. doi: 10.1136/jmg.31.12.916.
4
X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.X连锁进行性混合性耳聋：一种涉及Xq21更近端区域的新微缺失。
Am J Hum Genet. 1995 Jan;56(1):224-30.
5
Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.特纳综合征与女性性染色体畸变：推导临床特征发展中涉及的主要因素。
Hum Genet. 1995 Jun;95(6):607-29. doi: 10.1007/BF00209476.
6
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).与井喷相关的X连锁混合性耳聋（DFN3）患者的微缺失。
Am J Hum Genet. 1992 Jul;51(1):38-44.
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Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.对位于Xq21的X连锁耳聋和非Fra(X) - X连锁智力迟钝相关基因的物理精细定位。
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对雄性存活缺失和重复进行分子分析，可对Xq近端的52个DNA探针进行排序。
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Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.伴有智力发育迟缓的X连锁性视网膜色素变性的产前诊断，与细胞学可检测到的X染色体缺失相关。
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