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Trisomy 4p14 ? 4pter with translocation t(4;15)(p14;p12) in the father

✍ Scribed by Schr�cksnadel, H. ;Feichtinger, Ch. ;Scheminzky, Ch.

Book ID
104754137
Publisher
Springer-Verlag
Year
1975
Weight
435 KB
Volume
29
Category
Article
ISSN
0018-7348

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✦ Synopsis

A trisomy 4pl4->4pter in a 15-year-old girl is reported. The main features are physical and mental retardation and the absence of gross malformations. The relevance of other symptoms found in the patient is discussed.

Zusammen]assung. Es wird fiber eine Trisomie 4pl4~4pter bet einem 15j/ihrigen M~dchen berichtet. Das klinische Bild ist gekermzeichnet durch kSrperliche und geistige Retardierung sowie dutch das Fehlen yon schweren 1VfiBbildungen. Die Spezifitiit der dysplastischen Stigmata wird an Hand yon vergleichbaren F/~llen diskutiert.

📜 SIMILAR VOLUMES

dup(4p 15→4pter) in a 19-year-old woman
dup(4p 15→4pter) in a 19-year-old woman resulting from a maternal 4;14 translocation
✍ Clark, Constance E. ;Telfer, Mary A. ;Cowell, Henry R. ;Kalamchi, Ali ;Steg, Nin 📂 Article 📅 1982 🏛 John Wiley and Sons 🌐 English ⚖ 276 KB

## Abstract We describe a 19‐year‐old woman who has a duplication of 4p. The karyotype is 46,XX, – 14, + der(14),t(4;14) (p15;p12)mat in lymphocytes and skin fibroblasts. The patient has coarse hair, prominent forehead and tip of nose, coloboma, scoliosis, and mental retardation.

Breakpoint within the nucleolus organize
Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t(4;14)(q21;p12)
✍ Grabowski, Monika; Fauth, Christine; Wirtz, Antje; Speicher, Michael R. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 1 views

Reciprocal translocations involving a break in the nucleolus organizer region (NOR) are rare. A balanced translocation in a mother and her fetus with breakpoints in the NOR at 14p12 and on the long arm of a chromosome 4 at band 4q21 is described. The rearrangement was characterized by Ag-NOR stainin