✦ LIBER ✦

Presumptive long arm deletion of chromosome 8: a new syndrome?

✍ Scribed by K. Taysi; M. J. Noetzel; A. W. Strauss

Book ID: 104700328
Publisher: Springer
Year: 1979
Tongue: English
Weight: 296 KB
Volume: 51
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00278291

No coin nor oath required. For personal study only.

✦ Synopsis

This communication describes an infant with growth and psychomotor retardation and severe congenital malformations, who was found to have an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8) (q13q22). Comparison with the only other previously reported patient with a deletion of a similar chromosomal segment suggested that deletion of the long arm of chromosome 8 may constitute a clinically recognizable syndrome.

📜 SIMILAR VOLUMES

Langer-Giedion syndrome and deletion of

Langer-Giedion syndrome and deletion of the long arm of chromosome 8

✍ J. P. Fryns; N. Logghe; M. Eygen; H. Berghe 📂 Article 📅 1981 🏛 Springer 🌐 English ⚖ 122 KB

Interstitial Deletion of the Long Arm of

Interstitial Deletion of the Long Arm of Chromosome 8 without Langer-Giedion Syndrome

✍ Satoru Kazukawa; Masaomi Endo; Tsutomu Fujii; Ariyuki Hori; Kiyomi Yamada; Toshi 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 962 KB

A new syndrome resulting from partial de

A new syndrome resulting from partial deletion of the long arm of chromosome 11

✍ L.G. Linarelli; K.G. Pai; S. Pan; H.M. Rubin 📂 Article 📅 1975 🏛 Elsevier Science 🌐 English ⚖ 105 KB

Deletion of the distal long arm of chrom

Deletion of the distal long arm of chromosome 1: A definable syndrome

✍ Johnson, Virginia P. ;Heck, Louis J. ;Carter, Guy A. ;Flom, Jon O. ;Opitz, John 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 633 KB

Based on analysis of 15 cases, there appears to be a characteristic facial appearance and pattern of associated malformations that would allow clinical delineation of deletion of the distal bands of lq. Characteristic manifestations include round face with prominent "cupid's bow" and downturned corn

TURNER'S SYNDROME AND LONG-ARM DELETIONS

TURNER'S SYNDROME AND LONG-ARM DELETIONS OF X CHROMOSOME

✍ Slater, Rosalyn; Ntuyabaliwe, W.K. 📂 Article 📅 1974 🏛 The Lancet 🌐 English ⚖ 290 KB

Terminal or interstitial deletion in chr

Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?

✍ Erica M. Bühler; U. K. Bühler; R. Christen 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 344 KB