✦ LIBER ✦

Complex chromosomal translocation in a patient with Kallmann syndrome

✍ Scribed by Kroisel, Peter M.; Petek, Erwin; Wagner, Klaus; Kurnik, Peter

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 2 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000320)91:3<240::aid-ajmg18>3.0.co;2-p

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Frequency of Y chromosomal material in M

Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome

✍ L�pez, Marisol; Canto, Patricia; Aguinaga, M�nica; Torres, Leda; Cervantes, Alic 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 2 views

Cytogenetic studies have shown that 40-60% of patients with Ullrich-Turner syndrome (UTS) are 45,X, whereas the rest have structural aberrations of the X chromosome or mosaicism with a second cell line containing a structurally normal or abnormal X or Y chromosome. However, molecular analysis has de

Submicroscopic deletion of chromosome 16

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome

✍ Taine, Laurence; Goizet, Cyril; Wen, Zong Qi; Petrij, Fred; Breuning, Martijn H. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 1 views

The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, and typical face. The RTS locus was assigned to 16p13.3, and interstitial submicroscopic deletions of this region (RT1 cosmid, D16S237) were initially identified in

Relatively longer hand in patients with

Relatively longer hand in patients with Ullrich-Turner syndrome

✍ Uematsu, Ayumi; Yorifuji, Tohru; Muroi, Junko; Yamanaka, Chutaro; Momoi, Toru 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

We analyzed the total hand length (HL) and length of noncarpal bones (NCL) in 50 Japanese patients with Ullrich-Turner syndrome (UTS) and in 443 other patients with short stature used as controls. In each patient group we calculated relative HL (RHL= HL/ height) and relative NCL (RNCL= NCL/ height).

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 👁 1 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

Klinefelter and trisomy X syndromes in p

Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15—A coincidence?

✍ Butler, Merlin G.; Hedges, Lora K.; Rogan, Peter K.; Seip, James R.; Cassidy, Su 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 2 views

Renal cell carcinoma with X;1 translocat

Renal cell carcinoma with X;1 translocation in a child with Klinefelter syndrome

✍ Yenamandra, Aswani; Zhou, Xianting; Trinchitella, Lisa; Susin, Myron; Sastry, Su 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 1 views

Klinefelter syndrome (KS) is a sex chromosome abnormality occurring in 1 in 1,000 males. An association with leukemia, germ cell tumor, and male breast cancer has been suggested in KS. Such information is important for professionals caring for KS patients as the condition is frequently not clinicall