Ring‐11 chromosome: Phenotype‐karyotype correlation with deletions of 11q
作者:
Anthony J. Cousineau,
James V. Higgins,
Ajovi B. Scott‐Emuakpor,
Gita Mody,
John M. Opitz,
期刊:
American Journal of Medical Genetics
(WILEY Available online 1983)
卷期:
Volume 14,
issue 1
页码: 29-35
ISSN:0148-7299
年代: 1983
DOI:10.1002/ajmg.1320140106
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: ring‐11 chromosome;del(11q24→11qter);phenotype‐karyotype correlation;del(11q) syndrome
数据来源: WILEY
摘要:
AbstractThe cytogenetic evaluation of a female infant with congenital anomalies led to the identification of the second reported case of a ring‐11 chromosome. Unlike the previously described case, in which the patient had only minimal clinical findings and no demonstrable loss of material from the ring, our patient had numerous anomalies that were asssociated with a substantial deficiency of 11q material. The different phenotypes in these two cases represent variation in the amount and location of the chromosomal material lost during the genesis of the ring.The manifestations of this patient and the deletion of region q24→qter from the ring‐11 identify a specific chromosome deletion syndrome referred to as del (11q) syn
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