Abstract:
:We describe two patients, a 19-year-old girl and a 19-year-old boy, with mosaic trisomy 18 and pigmentary dysplasias. Both patients had profound growth and mental retardation, marked kyphoscoliosis, bushy eyebrows, bulbous nose, simple ears, and joint contractures - clinical manifestations of long survivors with mosaic or non-mosaic trisomy 18. In addition, the boy showed total asymmetry. Pigmentary dysplasias of the skin with hypopigmented whorls and streaks, initially absent or overlooked at the ages 2 and 15 years, were detected on close examination. It is advisable to check closely every long survivor with mosaic or purportedly non-mosaic trisomy 18 for pigmentary dysplasias.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Murano I,Ohashi H,Tsukahara M,Tonoki H,Okino F,Atsumi M,Kajii Tdoi
10.1111/j.1399-0004.1991.tb02988.xsubject
Has Abstractpub_date
1991-01-01 00:00:00pages
68-74issue
1eissn
0009-9163issn
1399-0004journal_volume
39pub_type
杂志文章abstract::Myotonic dystrophy (MD) is an autosomal dominant disorder that has a high prevalence in Saguenay-Lac-St-Jean. A case-control study, based on a population register, of 373 MD patients who married in this region between 1855 and 1971 was conducted to determine whether their fertility was affected by the disorder. Six de...
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