Double autosomal trisomy and mosaicism for chromosomes no. 8 and no. 21.
نویسندگان
چکیده
منابع مشابه
Trisomy D1 (13-15) associated with XO-XY mosaicism.
Double aneuploidy in which an extra sex chromosome coexists with autosomal trisomy was first reported in a child with trisomy 21 and XXY sex chromosomes (Ford, Jones, Miller, Mittwoch, Penrose, Ridler, and Shapiro, 1959); since then XXX trisomy 21 (Day, Wright, Koons, and Quigley, 1963; Yunis, Hook, and Alter, 1964), XYY trisomy 21 (Verresen and van den Berghe, 1965), XXX trisomy 18 (Uchida and...
متن کاملOrigin and mechanisms of non-disjunction in human autosomal trisomies.
Chromosomal aneuploidy is one of the major causes of pregnancy wastage. In this review we summarize the knowledge about the origin and mechanisms of non-disjunction in human autosomal trisomies 8, 13, 15, 16, 18, and 21, accumulated during the last decade by using DNA polymorphism analysis. Maternal meiosis I non-disjunction is the most important single class, but chromosome-specific patterns e...
متن کاملDouble Autosomal Trisomy and Mosaicism
There have been relatively few reports of individuals with double autosomal trisomy (Gagnon et al., 1961; Becker, Burke, and Albert, 1963; Hsu et al., 1965; Marks, Wiggins, and Spector, 1967). There have been rather more published accounts of individuals showing trisomy for one autosome and an additional chromosome in the sex chromosome complement as well. Of these, only those with the sex chro...
متن کاملMosaicism for trisomy 21 in a patient with young-onset dementia: a case report and brief literature review.
OBJECTIVE To describe a case of young-onset Alzheimer disease (AD) due to mosaicism for trisomy 21. DESIGN Case report of a single patient. SETTING Tertiary referral dementia clinic. PATIENT A 55-year-old man with a mild degree of developmental delay but no previous diagnosis of Down syndrome and only minimal physical manifestations of Down syndrome presented with gradually progressive co...
متن کاملDown Syndrome: Clinical and Genetic Aspects, Genetic Counseling and Prenatal Screening and Diagnosis
Down syndrome (DS) or trisomy 21 is the most common genetic disorder with a prevalence of 1 in 660 live births [1]. In 1959, Lejeune and colleagues discovered the genetic basis of DS and named as trisomy of chromosome 21, which is the smallest human autosomal chromo‐ some [2]. Trisomy 21 can occur as three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. Free tri...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 11 1 شماره
صفحات -
تاریخ انتشار 1974