• Issue

    American Journal of Medical Genetics: Volume 80, Issue 4

    303-440
    4 December 1998
Previous Issue|Next Issue
Export Citation(s)Download PDF(s)

Research Articles

Full Access

Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome

Piergiorgio Franceschini,  Domenico Licata,  Andrea Guala,  Giuseppe Di Cara,  Federico Signorile,  Daniele Franceschini,  Lorenzo Genitori,  Gabriella Restagno, 
  • Pages: 303-308
  • First Published: 15 December 1998
Full Access

Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and “prehensile” halluces: A new syndrome?

Debra Day-Salvatore,  David McLean, 
  • Pages: 309-313
  • First Published: 15 December 1998
Full Access

Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus

Sabine Rudnik-Schöneborn,  Garth A. Nicholson,  Graeme Morgan,  Dorothee Röhrig,  Klaus Zerres, 
  • Pages: 314-321
  • First Published: 15 December 1998
Full Access

Atypical case of Smith-Lemli-Opitz syndrome: Implications for diagnosis

Brad Angle,  G.S. Tint,  Oraib A. Yacoub,  Ann L. Clark, 
  • Pages: 322-326
  • First Published: 15 December 1998
Full Access

Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I

Hiroyuki lkeda,  Toshiyuki Kimura,  Tohru Ikegami,  Mitsuhiro Kato,  Akira Matsunaga,  Shinkichi Yokoyama,  Seiji Yamaguchi,  Toshihiro Ohura,  Kiyoshi Hayasaka, 
  • Pages: 327-329
  • First Published: 15 December 1998
Full Access

Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies

Dieter Meschede,  Frank Louwen,  Irmgard Nippert,  Wolfgang Holzgreve,  Peter Miny,  Jürgen Horst, 
  • Pages: 330-334
  • First Published: 15 December 1998

Research Articles

Full Access

Mutation analysis of Gaucher disease patients from Argentina: High prevalence of the RecNciI mutation

Bru Cormand,  Theresa L. Harboe,  Laura Gort,  Cristina Campoy,  Mariana Blanco,  Néstor Chamoles,  Amparo Chabás,  Lluïsa Vilageliu,  Daniel Grinberg, 
  • Pages: 343-351
  • First Published: 15 December 1998
Full Access

Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1

Tohru Ikegami,  Changqing Lin,  Mitsuhiro Kato,  Aiko Itoh,  Ikuya Nonaka,  Masayuki Kurimura,  Hisayuki Hirayabashi,  Yukito Shinohara,  Atsuko Mochizuki,  Kiyoshi Hayasaka, 
  • Pages: 352-355
  • First Published: 15 December 1998
Full Access

Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers

Denilce R. Sumita,  Mariz Vainzof,  Simone Campiotto,  Antonia M. Cerqueira,  Marta Cánovas,  Paulo A. Otto,  Maria Rita Passos-Bueno,  Mayana Zatz, 
  • Pages: 356-361
  • First Published: 15 December 1998
Full Access

Severe congenital anomalies requiring transplantation in children with Kabuki syndrome

Amanda Ewart-Toland,  Gregory M. Enns,  Victoria A. Cox,  G. Chandra Mohan,  Philip Rosenthal,  Mahin Golabi, 
  • Pages: 362-367
  • First Published: 15 December 1998
Full Access

Identification of an unusual marker chromosome by spectral karyotyping

Bing Huang,  Yi Ning,  Allen N. Lamb,  Constance J. Sandlin,  Mehdi Jamehdor,  Thomas Ried,  James Bartley, 
  • Pages: 368-372
  • First Published: 15 December 1998
Full Access

Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis syndrome: Another ophthalmologic complication

Dusica Babovic-Vuksanovic,  Syed M. Jalal,  James A. Garrity,  Dennis M. Robertson,  Noralane M. Lindor, 
  • Pages: 373-376
  • First Published: 15 December 1998
Full Access

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families

Barbara K. Goodman,  Lisa G. Shaffer,  Julie Rutberg,  Mary Leppert,  Karen Harum,  Sarantis Gagos,  James H. Ray,  Martin G. Bialer,  Xianting Zhou,  Beth A. Pletcher,  Stuart K. Shapira,  Michael T. Geraghty, 
  • Pages: 377-384
  • First Published: 15 December 1998
Full Access

Angelman syndrome: Are the estimates too low?†

Robert H. Buckley,  Nuhad Dinno,  Patricia Weber, 
  • Pages: 385-390
  • First Published: 15 December 1998
Full Access

Frequent loss of imprinting of the H19 and IGF-II genes in ovarian tumors

Hong Tae Kim,  Bo Hwa Choi,  Norio Niikawa,  Tae Sung Lee,  Sung Ik Chang, 
  • Pages: 391-395
  • First Published: 15 December 1998

Brief Clinical Reports

Full Access

Association of terminal chromosome 1 deletion with Sertoli cell-only syndrome

Eba H. Hathout,  Kevin Thompson,  Marti Baum,  Kenneth W. Dumars, 
  • Pages: 396-398
  • First Published: 15 December 1998

Research Articles

Full Access

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome

Roberto T. Zori,  Debbie J. Marsh,  Gail E. Graham,  Errol B. Marliss,  Charis Eng, 
  • Pages: 399-402
  • First Published: 15 December 1998
Full Access

Short stature, brachydactyly, nail dysplasia, and mental retardation: Further observation of the Tonoki syndrome

Giovanni Sorge,  Sabrina Baieli,  Laura Mauceri,  Filippo Greco,  Agata Fiumara, 
  • Pages: 403-405
  • First Published: 15 December 1998
Full Access

Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family

Anil K. Lalwani,  Ali Attaie,  Frederick T. Randolph,  Dilip Deshmukh,  Cynthia Wang,  Anand Mhatre,  Edward Wilcox, 
  • Pages: 406-409
  • First Published: 15 December 1998
Full Access

Segregation analysis of Parkinson disease

Sepideh Zareparsi,  Todd D. Taylor,  Emily L. Harris,  Haydeh Payami, 
  • Pages: 410-417
  • First Published: 15 December 1998
Full Access

Centromeric dna break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16†

Jin-Chen C. Wang,  Peter Mamunes,  Shi-Ying Kou,  Jennifer Schmidt,  Rong Mao,  Wei-Tong Hsu, 
  • Pages: 418-422
  • First Published: 15 December 1998
Full Access

Lethal osteosclerotic osteochondrodysplasia with platyspondyly, metaphyseal widening, and intracellular inclusions in sibs

Steven G. Brodie,  Ralph S. Lachman,  Ann F. Jewell,  Carey L. Winkler,  Loyda Nolasco,  William R. Wilcox, 
  • Pages: 423-428
  • First Published: 15 December 1998
Full Access

New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects

Alex Duval,  Odile Boute,  Louise Devisme,  Anne S. Valat,  Sylvie Manouvrier, 
  • Pages: 429-434
  • First Published: 15 December 1998

Letters to the Editor

Full Access

Hypomelanosis of Ito: A symptom, not a syndrome

M.A.M. van Steensel,  P.M. Steijlen, 
  • Page: 435
  • First Published: 15 December 1998
Full Access

Familial occurrence of a del(Xp-) chromosome: Pitfall in karyotype/phenotype correlation

Antje Soyke,  Markus Stumm,  Petra Krebs,  Dorothee-Ursula Kloos,  Peter Wieacker,  Jessica Elsner,  Klaus Mohnike, 
  • Pages: 436-438
  • First Published: 15 December 1998
Full Access

Re: Metacarpophalangeal analysis in Crouzon syndrome

Peter J. Anderson,  Robert D. Evans, 
  • Page: 439
  • First Published: 15 December 1998
Full Access

A further case of choanal atresia in the deletion (9p) syndrome

Vandana Shashi M.D.,  David Berry M.D.,  Tara H. Stamper,  Mark Pettenati Ph.D., 
  • Page: 440
  • First Published: 15 December 1998