Pseudoaminopterin syndrome and trisomy 9
β Scribed by Stevenson, David A. ;Low, Jasmine ;King, Jerald ;Opitz, John M. ;Miller, Mark E.
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 73 KB
- Volume
- 128A
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
Two infants with trisomy involving chromosome 9 are described. One had complete trisomy 9 and the other karyotype 47,XX,+der(9),t(7;9) (p22;q32)mat. A trisomy 9 syndrome is delineated, consisting of features of the trisomy 9p syndrome and various other malformations. These include abnormalities of t
A low-birth-weight near-term male infant was found to have a non-familial 47,XΒ₯ chromosome complement with an extra medimn-sized metacentrie chromosome slightly larger than a number 16. By Giemsa-trypsin (G-banding) this extra chromosome was determined to be a number 9 with deletion of approximately
The clinical features consisting mainly of enophthalmos, beaked nose, narrow palpebral fissures, receding chin, long fingers and toes, typical for chromsomal syndrome or partial trisomy 9q, were confirmed in a new case.