Cytogenetic analysis of an abnormal newborn girl showed an extra chromosome with the characteristics of an isodicentric 9p chromosome [idic (9)(pter+ql&pter)] in 98% of peripheral lymphocyte metaphases examined. This cytogenetic interpretation was substantiated by quantitative measurement of erythro
✦ LIBER ✦
Congenital diaphragmatic hernia in a patient with tetrasomy 9p
✍ Scribed by Tiago Henriques-Coelho; Natália Oliva-Teles; M. Luz Fonseca-Silva; Dick Tibboel; Hercília Guimarães; Jorge Correia-Pinto
- Book ID
- 116685393
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 97 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0022-3468
No coin nor oath required. For personal study only.
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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