Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnor
Trisomy 9 associated with an enlarged 9qh segment in a liveborn
โ Scribed by Marina Seabright; Nina Gregson; Sarah Mould
- Book ID
- 104709555
- Publisher
- Springer
- Year
- 1976
- Tongue
- English
- Weight
- 162 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0340-6717
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โฆ Synopsis
This report describes the third case of a complete trisomy 9 in a liveborn infant. A tentative explanation for the origin of a "very large" h-segment which was not present in either parent of the proposita is put forward.
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We report the ultrasound detection of cranial abnormalities in a fetus with partial trisomy 9 (pter-q22) and partial trisomy 21 (q22.3-qter) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 9;21. Prenatal sonographic findings of the proband at 24
We describe the first case of maternal uniparental disomy (UPD) of chromosome 9 in a fetus who was shown to have mosaic trisomy 9 in a chorionic villus sample. Karyotyping and molecular studies following termination of the pregnancy confirmed mosaicism in the placenta and maternal UPD(9) in the feta
We report on a newborn boy with a congenital heart defect, severe pre- and postnatal growth retardation, feeding problems, facial anomalies and unilateral hydronephrosis. Cytogenetic analysis showed extra chromosomal material on the short arm of one chromosome 15 that at first sight could be mistake