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American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

11 November 1996

Volume 65, Issue 4

Pages fmi–fmi, 247–374

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Erratum
    5. Books Received
    6. Genetic Drifts
    7. Brief Clinical Reports
    8. Book Reviews
    9. Letters to the Editor
    10. Books Received
    1. Masthead (page fmi)

      Article first published online: 9 MAR 2007 | DOI: 10.1002/ajmg.1320650401

  2. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Erratum
    5. Books Received
    6. Genetic Drifts
    7. Brief Clinical Reports
    8. Book Reviews
    9. Letters to the Editor
    10. Books Received
    1. Trisomy 17 detected in amniotic fluid cells but not in newborn infant (pages 247–248)

      Merlin G. Butler, Richard L. Neu and Kay Mitchell

      Article first published online: 9 MAR 2007 | DOI: 10.1002/ajmg.1320650402

    2. Propositus with Weaver syndrome and his mildly-affected mother: Implication of nontraditional inheritance? (pages 249–251)

      Gen Nishimura, Tomonobu Hasegawa and Toshiro Nagai

      Article first published online: 9 MAR 2007 | DOI: 10.1002/ajmg.1320650403

    3. GAPO syndrome in Türkiye (pages 252–253)

      Bekir Sitki Şayli and Davut Gül

      Article first published online: 9 MAR 2007 | DOI: 10.1002/ajmg.1320650404

  3. Erratum

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Erratum
    5. Books Received
    6. Genetic Drifts
    7. Brief Clinical Reports
    8. Book Reviews
    9. Letters to the Editor
    10. Books Received
    1. You have free access to this content
      Erratum (page 254)

      Article first published online: 9 MAR 2007 | DOI: 10.1002/ajmg.1320650405

  4. Books Received

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Erratum
    5. Books Received
    6. Genetic Drifts
    7. Brief Clinical Reports
    8. Book Reviews
    9. Letters to the Editor
    10. Books Received
    1. Books received (pages 255–256)

      Article first published online: 9 MAR 2007 | DOI: 10.1002/ajmg.1320650406

  5. Genetic Drifts

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Erratum
    5. Books Received
    6. Genetic Drifts
    7. Brief Clinical Reports
    8. Book Reviews
    9. Letters to the Editor
    10. Books Received
    1. The good that we do (pages 257–258)

      Nathaniel H. Robin

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<257::AID-AJMG1>3.0.CO;2-M

    1. Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11) (pages 259–265)

      Christi A. Walter, Lisa G. Shaffer, Celia I. Kaye, Robert W. Huff, Patricia D. Ghidoni, Christopher McCaskill, Melinda B. McFarland and Charleen M. Moore

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<259::AID-AJMG2>3.0.CO;2-K

    2. Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary value syndrome (pages 266–268)

      Kerri Hirt-Armon, Barbara R. Pober and Lewis B. Holmes

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<266::AID-AJMG3>3.0.CO;2-N

    3. Mortality in patients with acute intermittent porphyria requiring hospitalization: A United States case series (pages 269–273)

      Jennifer B. Jeans, Kay Savik, Cynthia R. Gross, Mary K. Weimer, Irene C. Bossenmaier, Claus A. Pierach and Joseph R. Bloomer

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<269::AID-AJMG4>3.0.CO;2-K

    4. Neurologic anomalies of Perrault syndrome (pages 274–276)

      Michael E. Gottschalk, Steven B. Coker and Larry A. Fox

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<274::AID-AJMG5>3.0.CO;2-P

    5. A revised and extended classification of the distal arthrogryposes (pages 277–281)

      Michael Bamshad, Lynn B. Jorde and John C. Carey

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M

    6. Distal arthrogryposis type 1: Clinical analysis of a large kindred (pages 282–285)

      Michael Bamshad, John F. Bohnsack, Lynn B. Jorde and John C. Carey

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<282::AID-AJMG7>3.0.CO;2-R

    7. Extending the spectrum of distal arthrogryposis (pages 286–290)

      Karen W. Gripp, Charles I. Scott Jr., Barbara C. Brockett, Linda Nicholson and William G. Mackenzie

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<286::AID-AJMG8>3.0.CO;2-N

    8. Toriello-Carey syndrome: Evidence for X-linked inheritance (pages 291–294)

      Paula Czarnecki, Didier Lacombe and Lester Weiss

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<291::AID-AJMG9>3.0.CO;2-S

    9. Epidemiological analysis of rare polydactylies (pages 295–303)

      Eduardo E. Castilla, Regina Lugarinho da Fonseca, Maria da Graça Dutra, Eva Bermejo, Lourdes Cuevas and Maria-Luísa Martínez-Frías

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<295::AID-AJMG10>3.0.CO;2-P

    10. Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13—implications for cytogenetics and molecular biology (pages 304–308)

      Anthony Lipson, Kerry Fagan, Alison Colley, Peter Colley, Gary Sholler, David Issacs and R. Kim Oates

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<304::AID-AJMG11>3.0.CO;2-Y

    11. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area22q11.2: Report of five families with a review of the literature (pages 309–316)

      Julie Leana-Cox, Suthipong Pangkanon, Karen R. Eanet, Martha S. Curtin and Eric A. Wulfsberg

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<309::AID-AJMG12>3.0.CO;2-Y

    12. What's in a name? chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes (pages 317–319)

      Eric A. Wulfsberg, Julie Leana-Cox and Giovanni Neri

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<317::AID-AJMG13>3.0.CO;2-X

    13. Unusual thermolability properties of beta-hexosaminidase: Studies of enzyme from cultured cells and clinical implications (pages 320–324)

      Elizabeth M. Prence, Irena Zalewski and Marvin R. Natowicz

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<320::AID-AJMG14>3.0.CO;2-W

    14. Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome (pages 325–331)

      Michael Bamshad, Susan Root and John C. Carey

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<325::AID-AJMG15>3.0.CO;2-W

    15. Pattern of malformations in the axial skeleton in human trisomy 18 fetuses (pages 332–336)

      Inger Kjaer, Jean W. Keeling and Birgit Fischer Hansen

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<332::AID-AJMG16>3.0.CO;2-V

  7. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Erratum
    5. Books Received
    6. Genetic Drifts
    7. Brief Clinical Reports
    8. Book Reviews
    9. Letters to the Editor
    10. Books Received
    1. Prenatal ultrasonographic findings of dominant polycystic kidney disease and postnatal renal evolution (pages 337–341)

      D. Sinibaldi, S. Malena, R. Mingarelli and G. Rizzoni

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<337::AID-AJMG17>3.0.CO;2-V

    1. Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats (pages 342–347)

      M. Gennarelli, G. Novelli F., Andreasi Bassi, L. Martorell, M. Cornet, E. Menegazzo, M.L. Mostacciuolo, J.M. Martinez, C. Angelini, A. Pizzuti, M. Baiget and B. Dallapiccola

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<342::AID-AJMG18>3.0.CO;2-U

    2. Trisomy 7 CVS mosaicism: Pregnancy outcome, placental and DNA analysis in 14 cases (pages 348–352)

      D.K. Kalousek, S. Langlois, W.P. Robinson, A. Telenius, L. Bernard, I.J. Barrett, P.N. Howard-Peebles and R.D. Wilson

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<348::AID-AJMG19>3.0.CO;2-U

  9. Book Reviews

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Erratum
    5. Books Received
    6. Genetic Drifts
    7. Brief Clinical Reports
    8. Book Reviews
    9. Letters to the Editor
    10. Books Received
    1. The Merck manual of diagnosis and therapy, sixteenth edition (page 353)

      Vaskar Mukerji

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<353::AID-AJMG20>3.0.CO;2-S

    2. Craniofacial abnormalities and clefts of the lip, alveolus and palate (page 354)

      M. Michael Cohen Jr.

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<354::AID-AJMG21>3.0.CO;2-S

  10. Letters to the Editor

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Erratum
    5. Books Received
    6. Genetic Drifts
    7. Brief Clinical Reports
    8. Book Reviews
    9. Letters to the Editor
    10. Books Received
    1. Fragile Xsyndrome in incestuous families (pages 355–356)

      Eva Seemanová

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<355::AID-AJMG22>3.0.CO;2-S

    2. An additional monogenic disorder that masquerades as multiple sclerosis (pages 357–358)

      Katayoun Vahedi, Elisabeth Tournier-Lasserve, Hugues Chabriat and Marie-Germaine Bousser

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<357::AID-AJMG23>3.0.CO;2-S

    3. Autosomal dominant overfolding of the helices (pages 359–360)

      F.R. Carls and I.T. Jackson

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<359::AID-AJMG24>3.0.CO;2-S

    4. Geleophysic dysplasia vs. Myhre syndrome (page 361)

      Luis E. Figuera

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<361::AID-AJMG25>3.0.CO;2-R

    5. Geleophysic dysplasia and Myhre syndrome: Reply to Luis E. Figuera (page 362)

      Julie McGaughran and Dian Donnai

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<362::AID-AJMG26>3.0.CO;2-R

    6. Phacomatosis pigmentokeratotica: A melanocytic-epidermal twin nevus syndrome (pages 363–365)

      Rudolf Happle, Rolf Hoffmann, Lucia Restano, Ruggero Caputo and Gianluca Tadini

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<363::AID-AJMG27>3.0.CO;2-R

    7. Williams syndrome in Slovakia (page 366)

      Vladimír Bzdúch

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<366::AID-AJMG28>3.0.CO;2-R

    8. Response to Drs. Shastry and Trese: Phenotype-genotype correlations in X-linked retinitis pigmentosa (page 367)

      Josseline Kaplan

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19961111)65:4<367::AID-AJMG29>3.0.CO;2-R

  11. Books Received

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Erratum
    5. Books Received
    6. Genetic Drifts
    7. Brief Clinical Reports
    8. Book Reviews
    9. Letters to the Editor
    10. Books Received
    1. Books received (pages 373–374)

      Article first published online: 9 MAR 2007 | DOI: 10.1002/ajmg.1320650407

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