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Recurrence risk in 21q/21q translocation Down syndrome

✍ Scribed by Kenneth L. Garver; Sandra G. Marchese; Mark W. Steele; Deborah M. Ketterer


Book ID
119459781
Publisher
Elsevier Science
Year
1982
Tongue
English
Weight
290 KB
Volume
100
Category
Article
ISSN
1097-6833

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πŸ“œ SIMILAR VOLUMES


Recurrence Risk in De Novo 21q21q Transl
✍ Hall, Bryan D. ;Opitz, John M. ;Reynolds, James F. πŸ“‚ Article πŸ“… 1985 πŸ› John Wiley and Sons 🌐 English βš– 113 KB πŸ‘ 1 views

## An article by Steinberg et a1 [1984] cautioned against the potential error of counseling families a low-recurrence risk when a previous child has had a de novo 21q21q translocation Down syndrome. They also studied 112 families (ie, sets of parents) with a child with de novo 21q21q translocatio

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## Abstract Recurrence of de novo GqGq Down syndrome (DS) in nine reported families and the low frequency of this chromosome abnormality in the population prompted this multicenter study to examine recurrence rate. Pedigrees and cytogenetic findings were analyzed from 112 families ascertained by a

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This paper reports the case of a one-day-old male child presenting the typical features of Patau's syndrome. The cytogenetic study by means of conventional techniques and GTG and QFQ banding techniques showed that the chromosomal pattern of the propositus was 46,XYq+,-21,+t(13q21q) 15ps+,22ps+, and