✦ LIBER ✦

Short-arm deletion of an X chromosome (45,XO/46,XX p-)

✍ Scribed by P. Kaiser; K. Gerhard-Ratschow; B. Zabel; E. Daume

Publisher: Springer
Year: 1977
Tongue: English
Weight: 232 KB
Volume: 37
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00293778

No coin nor oath required. For personal study only.

✦ Synopsis

A 31-year-old female patient with short stature, signs of gonadal dysgenesis, and slight Turner signs is described with a mosaic 45,XO/46,XX del (X) (qter leads to p11) determined with trypsin Giemsa-banding and C-staining. BUdR incorporation indicated the deleted X to be late replicating.

📜 SIMILAR VOLUMES

Deletion of short arm of a chromosome 18

Deletion of short arm of a chromosome 18 (46, XX, 18-)

✍ H. Reinwein; H. Ritter; U. Wolf 📂 Article 📅 1967 🏛 Springer 🌐 English ⚖ 119 KB

Partial short arm deletion of the X chro

Partial short arm deletion of the X chromosome 46,X,del(X)(qter→p21:)

✍ Mary Käosaar; A. -V. Mikelsaar 📂 Article 📅 1980 🏛 Springer 🌐 English ⚖ 467 KB

Interstitial deletion of the short arm o

Interstitial deletion of the short arm of chromosome 1: Attempt to establish a clinical phenotype (46,XX,del (1)(p22p32))

✍ Mircher, Clotilde ;Rethore, Marie-Odile ;Lespinasse, James ;Fert-Ferrer, Sandra 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 86 KB 👁 3 views

Interstitial deletion of the short arm o

Interstitial deletion of the short arm of chromosome 1 (46XY), del(1)(p13p22.3)

✍ Mattia, Frank R. ;Wardinsky, Terrance D. ;Tuttle, Deborah J. ;Grix, Arthur ;Smit 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 323 KB 👁 2 views

## Abstract A male patient with a de novo proximal interstitial deletion of the short arm of chromosome 1 (46XY), del(1)(p13p22.3) is described with multiple anomalies and developmental delay. This patient's clinical manifestations are compared to previously reported patients with deletions of chro

A case of an interstitial deletion of th

A case of an interstitial deletion of the long arm of chromosome 5: 46,XX,del(5)(q15q22)

✍ Tetsuo Fukuda; Yoshimitsu Fukushima; Yoshikazu Kuroki 📂 Article 📅 1984 🏛 Nature Publishing Group 🌐 English ⚖ 527 KB

Interstitial deletion of the long arm of

Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter→q2200::q3200→qter)

✍ P. Franceschini; M. Cirillo Silengo; G. F. Davi; M. A. Santoro; G. Prandi; C. Fa 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 196 KB

A newborn girl with multiple anomalies had an interstitial deletion of the long arm of chromosome 7 (46, XX,der(7)mat). The patient's mother and maternal grandmother were carriers of a balanced translocation, 46,XX, inv ins(5;7)(q14;q3200q2200). Both cytogenetic and clinical findings were similar to