Results 181 to 190 of about 9,097 (228)

Trisomy 21 mosaicism and maternal age

American Journal of Medical Genetics Part A, 2012
AbstractThe aim of this study was to quantify the maternal age‐specific risk for trisomy 21 mosaicism. Data were obtained on 322 trisomy 21 diagnoses with mosaicism and 27,943 simple trisomy 21 diagnoses recorded in the National Down Syndrome Cytogenetic Register from 1989 to 2009 in England and Wales.
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Mosaic Trisomy 21/Monosomy 21 in a Living Female Infant

Cytogenetic and Genome Research, 2009
Many autosomal monosomies are presumed to end in arrested growth in the first few mitoses, prior even to the time of implantation, with possibly some proceeding to the stage of occult abortion. The single exception may be monosomy 21, although this has been questioned, with most earlier reports of monosomy 21 recently re-interpreted as being due to an ...
H P, Nguyen, A, Riess, M, Krüger, P, Bauer, S, Singer, M, Schneider, H, Enders, A, Dufke   +7 more
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Copper/zinc superoxide dismutase (SOD‐1) activity in regular trisomy 21, trisomy 21 by translocation and mosaic trisomy 21

Clinical Genetics, 1982
Cu/Zn superoxide dismutase (SOD‐1) (E.C.1.15.1.1.) activity was estimated in children with regular trisomy 21‐Down syndrome as well as in cases of translocation and mosaic trisomy 21, as identified by the GTG, CBG and RHG banding techniques. SOD‐1 activity was found to be increased in all examined cases except trisomy 21 mosaicism.
A, Jeziorowska, L, Jakubowski, A, Armatys, B, Kałuzewski   +3 more
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Trisomy 21-trisomy 18 mosaicism in a boy with clinical Down's syndrome

The Journal of Pediatrics, 1967
Summary The case of a patient with clinically typical mongolism with a mosaicism of two trisomic cell lines is reported. To our knowledge this is the first such report in the medical literature.
J F, Marks, K M, Wiggins, B J, Spector
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Paternal trisomy 21 mosaicism and Down's anomaly

Humangenetik, 1973
A family is described in which the 1-year-old boy had clinical Down's syndrome with regular trisomy 21 in the karyotype. The mother was healthy, was aged 22 years at the birth of her son, and had a normal 46,XX karyotype. The father (23) was phenotypically also normal, but proved to be a mosaic for trisomy 21.
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Parental trisomy 21 mosaicism.

American journal of human genetics, 1982
A family with three children with trisomy 21 in which the mother is a phenotypically normal, trisomy 21/normal mosaic was studied. Chromosome 21 fluorescent heteromorphisms were used to document that two of the three number 21's in two of the Down syndrome offspring were of maternal origin. Five cytogenetic surveys in which both parents of a child with
D J, Harris, M L, Begleiter, J, Chamberlin, L, Hankins, R E, Magenis   +4 more
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Double aneuploidy: Trisomy 21 andXO/XX sex chromosome mosaicism

The Journal of Pediatrics, 1964
1. A fifth family with familial congenital extrahepatic biliary is described. 2. ClinicMty and pathologically familiaI and nonfamilial biliary atresia are similar except for a predominance of males in the familial condition. 3. The sex incidence and association of other congenital anomalies is discussed in relation to a possible etiology.
A W, ROOT, A M, BONGIOVANNI, S, BREIBART, W J, MELLMAN   +3 more
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DERMATOGLYPHIC DISTANCES AND POSITION OF 21 TRISOMY MOSAICS*

Journal of Intellectual Disability Research, 1979
The position of 21 trisomy mosaics with an average proportion of trisomic cells approximating 0.5 in relation to normal subjects and those with complete 21 trisomy has been evaluated by means of dermatoglyphic distances, using samples of 142 mosaics, 302 normal controls and 225 complete 21 trisomics for males and females separately and combined ...
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Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks

American Journal of Medical Genetics, 2005
The recurrence risk for Down syndrome (DS) is about 1% in case of a previous offspring with trisomy 21 and minimal in case of a de novo (21;21) translocation. We have monitored 1,211 pregnancies in the first and second trimester after a prior occurrence of trisomy 21. Six couples had a trisomy 21 fetus in a subsequent pregnancy.
E S, Sachs, M G, Jahoda, F J, Los, L, Pijpers, J W, Wladimiroff   +4 more
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Tissue-specific mosaicism for trisomy 21 and congenital heart disease

The Journal of Pediatrics, 1992
Cytogenetic studies in a girl with ventricular septal defect and mosaicism for trisomy 21 showed that trisomy was present in most cells from the myocardium and lung but in only a minority from the skin and lymphocytes. These findings emphasize the importance of tissue-specific mosaicism as a cause of certain cardiovascular diseases.
Y, Yokoyama, K, Narahara, M, Kamada, K, Tsuji, Y, Seino   +4 more
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