Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype
نویسندگان
چکیده
منابع مشابه
Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype.
We describe 2 patients with a combination of findings strikingly similar to those described by Pitt et al. [1984], consisting of severe mental retardation, pre- and postnatal growth retardation, history of seizures, microcephaly, ocular proptosis, mid-face hypoplasia, short and flat philtrum, and wide mouth. Our cases included, a total of only 9 patients has been described. One of our patients ...
متن کاملPitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome.
Received 24 October 1996 Revised version accepted for publication 30 January 1997 Abstract Recently, a deletion of chromosome 4pter was found in three patients with PittRogers-Danks syndrome. We investigated two of these patients, by means of DNA and FISH studies, together with two additional patients with Pitt-Rogers-Danks syndrome, to determine the critical region of the deletion in these pat...
متن کاملWidening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS) and WolfHirschhorn syndrome (WHS), the former being considered a milder phenotype of the latter. We describe a patient with partial deletion of chromosome 4 and partial duplication of chromos...
متن کاملTranslocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.
Three families are reported who have a translocation involving 4p16.3. Nine subjects are described with the clinical features of the Pitt-Rogers-Danks (PRD) syndrome confirming pre- and postnatal growth failure, microcephaly, severe mental retardation, seizures, and a distinctive facial appearance; a deletion of 4p16.3 was seen in all eight patients studied with fluorescence in situ hybridisati...
متن کاملPitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.
Recently, a deletion of chromosome 4pter was found in three patients with Pitt-Rogers-Danks syndrome. We investigated two of these patients, by means of DNA and FISH studies, together with two additional patients with Pitt-Rogers-Danks syndrome, to determine the critical region of the deletion in these patients and to compare this with the critical region in Wolf-Hirschhorn syndrome. All four p...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 1996
ISSN: 0148-7299,1096-8628
DOI: 10.1002/(sici)1096-8628(19961202)66:1<104::aid-ajmg28>3.0.co;2-v