Trisomy 21 mosaicism in two successive generations in a family.
نویسندگان
چکیده
The occurrence of 46,XX/47,XX,+21 mosaicism in two successive generations implies an aetiological relationship between the 47,XX,+21 cell line of the mother and her daughter.
منابع مشابه
Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome.
Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome* Summary. Trisomy 21 mosaicism was identified by fluorescent quinacrine banding in a phenotypically normal mother, who gave birth to two children with trisomy 21 Down's syndrome. Trisomy 21 Down's syndrome associated with maternal mosaicism was first described by Smith et al in 1962. Since then there have been at ...
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 کاملReport of a Case with Trisomy 9 Mosaicism
Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...
متن کاملGerminal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?
It is well known that varying degrees of mosaicism for Trisomy 21, primarily a combination of normal and Trisomy 21 cells within individual tissues, may exist in the human population. This involves both Trisomy 21 mosaicism occurring in the germ line and Trisomy 21 mosaicism documented in different somatic tissues, or indeed a combination of both in the same subjects. Information on the inciden...
متن کاملChromosome mosaicism in a mentally retarded mother and her daughter.
Mosaicism for a chromosome of group G (21-22) has been described in many patients with typical Down's syndrome (Clarke, Edwards, and Smallpeice, 1961; Blank, Gemmell, Casey, and Lord, 1962; Smith, Therman, Patau, and Inhorn, 1962; Nichols, Coriell, Fabrizio, Bishop, and Bogg, 1962; Weinstein and Warkany, 1963; Lindsten, Alvin, Gustavson, and Fraccaro, 1962; Hayashi, Hsu, and Chao, 1962) and in ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 17 1 شماره
صفحات -
تاریخ انتشار 1980