𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome

✍ Scribed by D. Zhu; D. M. Alcorn; S. E. Antonarakis; L. S. Levin; P. C. Huang; T. N. Mitchell; A. C. Warren; I. H. Maumenee

Book ID
104663287
Publisher
Springer
Year
1990
Tongue
English
Weight
641 KB
Volume
86
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis

There are three types of X-linked cataracts recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes; congenital, with microcornea or slight microphthalmia; and the cataract-dental syndrome or Nance-Horan (NH) syndrome. To identify a DNA marker close to the gene responsible for the NH syndrome, linkage analysis on 36 members in a three-generation pedigree including seven affected males and nine carrier females was performed using 31 DNA markers. A LOD score of 1.662 at theta = 0.16 was obtained with probe 782 from locus DXS85 on Xp22.2-p22.3. Negative LOD scores were found at six loci on the short arm, one distal to DXS85, five proximal, and six probes spanning the long arm were highly negative. These results make the assignment of the locus for NH to the distal end of the short arm of the X chromosome likely.

πŸ“œ SIMILAR VOLUMES

Distal deletion of the short arm of chro
Distal deletion of the short arm of chromosome 6
✍ Zurcher, Vickie L. ;Golden, Wendy L. ;Zinn, Arthur B. πŸ“‚ Article πŸ“… 1990 πŸ› John Wiley and Sons 🌐 English βš– 443 KB πŸ‘ 3 views

## Abstract We report on a patient with deficiency of distal 6p and compare the clinical and cytogenetic findings in this child with those of three previously reported patients who had similar deletions. Distal del(6p) appears to be associated with a relatively non‐specific phenotype, with the poss