caa a22 4500 46798638X CHVBK 20180323112533.0 cr unu---uuuuu 170328e19901101xx s 000 0 eng 10.1007/BF00205172 doi (NATIONALLICENCE)springer-10.1007/BF00205172 Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome [Elektronische Daten] [D. Zhu, D. Alcorn, S. Antonarakis, L. Levin, P. Huang, T. Mitchell, A. Warren, I. Maumenee] Summary: 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 0=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. Springer-Verlag, 1990 Zhu D. The Johns Hopkins Center for Hereditary Eye Diseases of the Wilmer Ophthalmological Institute, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut Alcorn D. The Johns Hopkins Center for Hereditary Eye Diseases of the Wilmer Ophthalmological Institute, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut Antonarakis S. Genetics Unit, Department of Pediatrics, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut Levin L. Department of Oral Surgery, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut Huang P. Department of Biochemistry, School of Hygiene, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut Mitchell T. The Johns Hopkins Center for Hereditary Eye Diseases of the Wilmer Ophthalmological Institute, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut Warren A. Department of Psychiatry, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut Maumenee I. The Johns Hopkins Center for Hereditary Eye Diseases of the Wilmer Ophthalmological Institute, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut Human Genetics Springer-Verlag 86/1(1990-11-01), 54-58 0340-6717 86:1<54 1990 86 439 https://doi.org/10.1007/BF00205172 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00205172 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Zhu D. The Johns Hopkins Center for Hereditary Eye Diseases of the Wilmer Ophthalmological Institute, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut NATIONALLICENCE 700 1- Alcorn D. The Johns Hopkins Center for Hereditary Eye Diseases of the Wilmer Ophthalmological Institute, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut NATIONALLICENCE 700 1- Antonarakis S. Genetics Unit, Department of Pediatrics, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut NATIONALLICENCE 700 1- Levin L. Department of Oral Surgery, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut NATIONALLICENCE 700 1- Huang P. Department of Biochemistry, School of Hygiene, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut NATIONALLICENCE 700 1- Mitchell T. The Johns Hopkins Center for Hereditary Eye Diseases of the Wilmer Ophthalmological Institute, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut NATIONALLICENCE 700 1- Warren A. Department of Psychiatry, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut NATIONALLICENCE 700 1- Maumenee I. The Johns Hopkins Center for Hereditary Eye Diseases of the Wilmer Ophthalmological Institute, The Johns Hopkins Medical Institutions, 21205, Baltimore, MD, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/1(1990-11-01), 54-58 0340-6717 86:1<54 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer