𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Two cases of tetrasomy 9p syndrome with tissue limited mosaicism

✍ Scribed by Elisabet Lloveras; C. Pérez; F. Solé; L. Zamora; A. Lladonosa; B. Espinet; E. Silvestre; J. Serra; T. Vendrell; B. Fernández; M. Salido; A. Plaja

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
97 KB
Volume
124A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Tissue limited mosaicism in a patient wi
Tissue limited mosaicism in a patient with tetrasomy 9p
✍ Papenhausen, Peter ;Riscile, Gisele ;Miller, Karen ;Kousseff, Boris ;Tedesco, Th 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 413 KB 👁 2 views

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

New case of mosaic tetrasomy 9p with add
New case of mosaic tetrasomy 9p with additional neurometabolic findings
✍ Eggermann, Thomas; Rossier, Eva; Theurer-Mainka, Ute; Backsch, Claudia; Klein-Vo 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

Tetrasomy 9p is a rare chromosomal aberration that was described in 28 previous patients. Here we report on a newborn girl who was referred for genetic evaluation because of developmental delay, hypertonicity, microcephaly, minor anomalies, and neurometabolic findings. She had an isochromosome 9p (p

New case of non-mosaic tetrasomy 9p in a
New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl
✍ Lília Maria De Azevedo Moreira; Lucy Magalhães Freitas; Fábio Alexandre Ferreira 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB

## Abstract ## BACKGROUND The phenotypic expression of an additional chromosome 9 causes a very broad clinical spectrum of anomalies. The prognosis for infants with non‐mosaic tetrasomy 9p is poor, and they usually die at a very early age. ## CASE In this article we present a new case of complet

Non-mosaic tetrasomy 9p in a liveborn in
Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: Case report and comparison with trisomy 9p
✍ Leichtman, Lawrence G.; Zackowski, Joleen L.; Storto, Patrick D.; Newlin, Anna 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

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