Deletion of short arm of chromosome 18, Del(18p) syndrome
نویسندگان
چکیده
منابع مشابه
A patient with a short arm deletion of chromosome 18 (46,XY,18p-).
Recent advances in human cytogenetics have provided impetus for the mapping of autosomal genes. Inherited variations in the morphology of the chromosomes, such as translocations and deletions, can be used as markers in identifying chromosomes and possibly in localizing the genes within such chromosomes. Penrose and Delhanty (1961) and Shaw (1962) described two different pedigrees in which a 15/...
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A 17 year old girl investigated for mental retardation and minor anomalies was found to have an interstitial deletion of 4p. Her clinical and cytogenetic findings are compared with previous reported case of interstitial 4p deletion and with terminal 4p--deletions (Wolf-Hirschhorn syndrome).
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An infant with an interstitial deletion 46,XY, del(9)(pter leads to q22::q32 leads to qter) is described. Clinical features included abnormal craniofacies with hypotelorism, narrow palpebral fissures, sclerocornea, deep vertical groove, and supraorbital ridge hypoplasia. There was unilateral preaxial polydactyly and toe syndactyly. Generalised hirsutism was noted. The infant had surgery for duo...
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Congenital spherocytic anemia is a common disorder, but in most cases the nature of the underlying membrane lesion is unknown and the genetic defect has not yet been unequivocally mapped to a chromosome. We studied two dysmorphic siblings with neurologic findings and hemolytic anemia. Clinical and laboratory findings in these two siblings were consistent with the diagnosis of congenital spheroc...
متن کاملAssociation of Red Cell Spherocytosis With Deletion of the Short Arm of Chromosome
Congenital spherocytic anemia is a common disorder. but in most cases the nature of the underlying membrane lesion is unknown and the genetic defect has not yet been unequivocally mapped to a chromosome. We studied two dysmorphic siblings with neurologic findings and hemolytic anemia. Clinical and laboratory findings in these two siblings were consistent with the diagnosis of congenital spheroc...
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ژورنال
عنوان ژورنال: Journal of Indian Society of Pedodontics and Preventive Dentistry
سال: 2014
ISSN: 0970-4388
DOI: 10.4103/0970-4388.127063