✦ LIBER ✦

Evidence for two active X chromosomes in a human XXY triploid

✍ Scribed by David D. Weaver; Stanley M. Gartler; André Boué; Joëlle G. Boué

Publisher: Springer
Year: 1975
Tongue: English
Weight: 325 KB
Volume: 28
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00272480

No coin nor oath required. For personal study only.

✦ Synopsis

A human XXY chromatin negative triploid culture has been found to have both the A and B isozymes of glucose-6-phosphate dehydrogenase, as well as an intermediately migrating AB (hybrid) band. This finding indicates that the cells in this culture each possess 2 active X chromosomes. Possible mechanisms producing the abnormalities seen in this disorder are presented and discussed.

📜 SIMILAR VOLUMES

Cytogenetic and biochemical investigatio

Cytogenetic and biochemical investigations on fibroblast cultures and clones with one and two active X chromosomes of a 69,XXY triploidy

✍ W. Vogel; Thea Trautmann; Heide Hörler; S. Pentz 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 280 KB

Bromodeoxyuridine replication patterns showed that fibroblasts from a 69,XXY triploidy carried either one or two early replicating X chromosomes. The activity of alpha-galactosidase A measured in single cells fell into two classes with a ratio of 1:2. Dilute plating produced clones of both types wit

Complete androgen insensitivity in a 47,

Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome

✍ Uehara, Shigeki ;Tamura, Mitsutoshi ;Nata, Masayuki ;Kanetake, Jun ;Hashiyada, M 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 2 views

We describe a unique patient with complete androgen insensitivity syndrome and a 47,XXY karyotype. Androgen receptor assay using cultured pubic skin fibroblasts showed no androgen-binding capacity. Sequence analysis of the androgen receptor gene demonstrated two nonsense mutations, one in exon D and

Prader-Willi syndrome phenotype in X chr

Prader-Willi syndrome phenotype in X chromosome anomalies: Evidence for a distinct syndrome

✍ Stratakis, Constantine A. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 2 views

Recently, two female patients with supernumerary small marker X chromosome and a Prader-Willi syndrome (PWS)-like phenotype were reported by Tu ¨mer et al. [1998]. Both patients presented during childhood with obesity that started around the third year of life, mental retardation, small hands and fe

Evidence for two distinct tumor-suppress

Evidence for two distinct tumor-suppressor gene loci on the long arm of chromosome 11 in human oral cancer

✍ Katsuhiro Uzawa; Hiroyoshi Suzuki; Akira Komiya; Hiroshi Nakanishi; Katsunori Og 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 French ⚖ 511 KB

Audiometric evidence for two forms of X-

Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts ofHyp andGy mutations in mouse

✍ Boneh, Avihu ;Reade, Theresa M. ;Scriver, Charles R. ;Rishikof, Ellen ;Opitz, Jo 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 376 KB

Klinefelter's syndrome (47,XXY) in male

Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: Support for the notion of a gene-dose effect from the X chromosome

✍ R. Hal Scofield; Gail R. Bruner; Bahram Namjou; Robert P. Kimberly; Rosalind Ram 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 306 KB 👁 2 views

## Abstract ## Objective Systemic lupus erythematosus (SLE) is a systemic autoimmune disease that predominantly affects women. Despite isolated reports of patients with coexisting Klinefelter's syndrome (47,XXY) and SLE, no association of Klinefelter's syndrome with SLE or any other autoimmune dis