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Partial trisomy 13 plus partial trisomy 4q due to unusual segregation of translocation chromosomes

✍ Scribed by Christa Fonatsch; Sibylle D. Flatz; Eva Weitzel


Book ID
119838907
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
495 KB
Volume
15
Category
Article
ISSN
0009-9163

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The case of a 5-year-old boy with partial trisomy for the long arm of chromosome No. 4 is described. The pattern of abnormal development in this and in 12 previously reported cases is similar, but the phenotype is not as characteristic as that associated with some other types of chromosomal imbalanc

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## Abstract Interchromosomal insertional translocations are rare chromosome rearrangements with an incidence of about 1:80,000 live births. We report on the clinical and cytogenetic findings of a newborn baby with partial trisomy 10q22–10q24 due to a maternal insertional translocation 15;10. Partia

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We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at

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✍ Hegmann, Katherine M. ;Spikes, Aimee S. ;Orr-Urtreger, Avi ;Shaffer, Lisa G. πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 19 KB πŸ‘ 2 views

A genetics evaluation was requested for a 6-week-old infant with multiple congenital malformations including mild craniofacial anomalies, truncal hypotonia, hypospadias, and a ventriculoseptal defect. Blood obtained for chromosome analysis revealed an abnormal chromosome 4. Paternal chromosome analy