✦ LIBER ✦

Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes

✍ Scribed by Estop, A. M. ;Bansal, V. ;Lin, A. ;Levinson, F. ;Karlin, S. M. ;Surti, U. ;Wenger, S. L. ;Steele, M. W.

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 389 KB
Volume: 49
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320490412

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A case of intersexuality in pigs associa

A case of intersexuality in pigs associated with a de novo paracentric inversion 9 (p1.2; p2.2)

✍ A. Pinton; E. Pailhoux; F. Piumi; C. Rogel-Gaillard; R. Darré; M. Yerle; A. Duco 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 96 KB

In several mammalian species, genetic defects can be responsible for the interruption of and/or the deviation from the sequential steps of normal gonadal differentiation, leading to a sex‐reversal syndrome. In pigs, female‐to‐male sex‐reversal conditions are particularly frequent, but their aetiolog

X-inactivation patterns in lymphocytes a

X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes

✍ Christine M. Disteche; Karen Swisshelm; S. Forbes; Roberta A. Pagon 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 952 KB

De novo and complex imbalanced chromosom

De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23)

✍ Yong-Hui Jiang; Jose E. Martinez; Zhishuo Ou; M. Lance Cooper; Sung-Hae L. Kang; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 272 KB 👁 3 views

Refined FISH characterization of a de no

Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome

✍ Finelli, Palma ;Giardino, Daniela ;Russo, Silvia ;Gottardi, Giulietta ;Cogliati, 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 270 KB 👁 3 views

Independent occurrence of the novel Arg2

Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes

✍ Bimal D. M. Theophilus; Mohammad S. Enayat; Miyoko Higuchi; Haig H. Kazazian; St 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 58 KB 👁 1 views

Using chemical mismatch analysis or denaturing gradient gel electrophoresis followed by nucleotide sequencing, we have identified the same G6545A mutation leading to an Arg 2163 His substitution in the factor VIII gene of three haemophiliacs from unrelated families. One of the affected individuals h

Three unrelated individuals with perinat

✍ Nicola J. Rose; Katrina Mackay; Anne Paepe; Beat Steinmann; Hope H. Punnett; Ray 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 726 KB

In general, osteogenesis imperfecta is caused by heterozygous mutations in either of the genes encoding the alpha 1 or alpha 2 chains of type I collagen (COL1A1 and COL1A2, respectively). Usually, these mutations are unique to the affected individual or individuals within a family. In this study, si