American Journal of Medical Genetics (Am J Med Genet)

Publications in this journal

• Article: A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism. Xin-Li Huang, Ying S Zou, Tom A Maher, Stephanie Newton, Jeff M Milunsky American journal of medical genetics. Part A. 08/2

  Xin-Li Huang, Ying S Zou, Tom A Maher, Stephanie Newton, Jeff M Milunsky
  American Journal of Medical Genetics 01/2010;
• Article: A new de novo Balanced Translocation Breakpoint Truncating the Autism Suceptibility Candidate 2 (AUTS2) Gene in an Autistic Patient. Xin-Li Huang, Ying S. Zou, Thomas A. Maher, and Jeff M. Milunsky (2010) Am J Medical Genet A:2112-2115

  Ying S. Zou, Thomas A. Maher, Jeff M. Milunsky (2010) Am J Medical Genet A
  American Journal of Medical Genetics 01/2010;
• Article: Segregation analyses of asthma and respiratory allergy: The Humboldt family study

  Yue Chen, Audrey H. Schnell, Donna C. Rennie, Robert C. Elston, Lori A. Lockinger, James A. Dosman
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  ABSTRACT: We performed segregation analyses of asthma and respiratory allergy based on data from 309 nuclear families comprising 1,053 individuals living in the town of Humboldt, Saskatchewan, in 1993, using the REGD program of the S.A.G.E. program package. For adults, information on asthma and history of respiratory allergy was provided by the subjects themselves, and for children by their parents. When asthma was considered as the trait in segregation analysis, models of no major effect, with or without familial effects, were rejected, but they were not rejected after adjusting for history of respiratory allergy. The major gene hypothesis was not rejected before adjusting for history of respiratory allergy. When respiratory allergy was analyzed as the trait, both major gene and multifactorial models fitted the data well, regardless of whether there was adjustment for asthma or not. Other covariates adjusted for in the segregation analyses were age, sex, number of household smokers, current smoking, number of household members, generation, and house type. The data suggest that a major gene related to respiratory allergy may explain the familial aggregation of asthma. © 2001 Wiley-Liss, Inc.
  American Journal of Medical Genetics 07/2009; 104(1):23 - 30.
• Article: Further delineation of the critical region for the 9p-duplication syndrome. Ying S Zou, Xin-Li Huang, Masamichi Ito, Stephanie Newton, Jeff M Milunsky American journal of medical genetics. Part A. 02/2009; 149A(2):272-276.

  Ying S Zou, Xin-Li Huang, Masamichi Ito
  American Journal of Medical Genetics 01/2009;
• Article: S182 and STM2 gene missense mutations in sporadic Alzheimer disease

  Susumu Higuchi, Ph.D. Sachio Matsushita M.D, Yoshio Hasegawa, Taro Muramatsu, Shigeru Itabashi, Hiroyuki Arai
  American Journal of Medical Genetics 03/2007; 67(4):429 - 429.
• Article: Is the autosomal dominant Opitz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?

  Eric A. Wulfsberg M.D
  American Journal of Medical Genetics 03/2007; 64(3):523 - 524.
• Article: Association analysis between bipolar disorder and variants at the G72/G30 locus in a Russia sample

  A.Karpushova, A.Georgi, F.Schimbeck, V.Krasnov, S.Mosolov, et al
  American Journal of Medical Genetics 10/2006; 141B(7):748.
• Article: Prenatal diagnosis of bloody amniotic fluid

  Ivan Šubrt
  American Journal of Medical Genetics 06/2005; 27(1):237 - 237.
• Article: Biosynthesis and metabolism of 4‐hydroxynonenal in canine ceroid‐lipofuscinosis

  Aristotle N. Siakotos, Kathryn Schnippel, Renee C. Lin, Frederick J. G. M. Van Kuijk
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  ABSTRACT: Canine ceroid-lipofuscinosis (CCL) is a model of the juvenile type of Batten disease in human patients. Abnormalities have been reported previously in 4-hydroxynonenal (HNE) levels in English setters with CCL. The purpose of this study was to examine the sources of HNE in neutrophil membranes and plasma of CCL dogs. The fatty acid composition of neutrophil phospholipids, i.e., phosphatidyl ethanolamine and phosphatidyl serine, was determined by gasliquid-chromatography (GLC) since some polyunsaturated fatty acids (PUFA) are precursors of HNE. The copper catalyzed peroxidation of low density lipoprotein (LDL) was examined to determine the susceptibility of LDL from CCL dogs to peroxidation. The results indicated that a number of PUFA precursors of HNE decreased in affected and carrier neutrophil phospholipids, indicating that this source of HNE may be disease specific. The Cu++ catalyzed formation of HNE from LDL demonstrated that carrier and normal LDL produced large amounts of HNE, while LDL from affected dogs required much higher concentrations of Cu++ for maximal HNE production. These results provide additional support for the role of HNE in the pathogenetic events in NCL and support the view that lipid peroxidation may be an important contributor to the complex pathogenesis of the NCL. © 1995 Wiley-Liss, Inc.
  American Journal of Medical Genetics 06/2005; 57(2):290 - 293.
• Article: Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia

  C. G. Palmer Ph.D, J.-L. Blouin, M. J. Bull, P. Breitfeld, G. H. Vance, T. Van Meter, D. D. Weaver, N. A. Heerema, S. G. Colbern, J. R. Korenberg, S. E. Antonarakis, X. Chen
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  ABSTRACT: We describe a patient with an asymmetric double ring 21 in mosaic form, 45,XX,-21/46, XX,-21,+r(21), who has limited manifestations of Down syndrome and who developed acute myelofibrosis and megakaryocytic leukemia (AMKL), FAB M7, a hematologic disorder particularly common in Down syndrome patients. In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D21S3 on the telomeric side. FISH studies indicate two sizes of ring 21 in the patient. The origin of the supernumerary chromosome 21 in the proband was paternal; furthermore, the r(21) probably was formed postzygotically. Included in the duplicated segment are the candidate genes for leukemia AML-1, ETS, and ERG. The potential significance of disomic homozygosity of loci on 21q in M7 megakaryocytic leukemia is discussed. © 1995 Wiley-Liss, Inc.
  American Journal of Medical Genetics 06/2005; 57(4):527 - 536.
• Article: Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14

  John C. Mulley, Agi K. Gedeon, Kerry A. Thorn, Lyndall J. Bates, Grant R. Sutherland, John M. Opitz, James F. Reynolds
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  ABSTRACT: Linkage data using the markers DXS51, F9, DXS15, and DXS52 are presented from 14 pedigrees segregating with the fragile X. Cytogenetic and DNA data were combined by two- or three-point linkage analysis for estimation of lod scores and carrier probabilities in potential carriers. Recombination frequencies () corresponding to maximum z scores (ẑ) were obtained for DXS51 (ẑ = 3.45, = 0.0), DXS15 (ẑ = 0.40, = 0.06), F9 (ẑ = 3.15, = 0.09), and DX552 (ẑ = 3.60, = 0.11) with the fragile X. Considerable alterations to carrier probabilities occurred in some cases, especially when flanking markers were informative. The chance of mentally impaired offspring was reduced to 1% for five of eight women with prior carrier probabilities of 32%. Three pedigrees were identified in which mutation had possibly occurred. An alternative explanation for two of these was inheritance of the fragile X from normal males and for the other inheritance from a clinically normal woman. Probabilities were computed for each of these alternatives.
  American Journal of Medical Genetics 06/2005; 27(2):435 - 448.
• Article: Mosaic isochromosome 12p

  Richard M. Pauli, Renee A. Zeier, Gurbax S. Sekhon, James F. Reynolds
  American Journal of Medical Genetics 06/2005; 27(2):291 - 294.
• Article: De novo apparently balanced reciprocal translocation between 5q1l.2 and 17q23 associated with Klippel‐Feil anomaly and type A1 brachydactyly

  Ph.D. Yoshimitsu Fukushima M.D, Hirofumi Ohashi, Keiko Wakui, Hiroshi Nishimoto, Masato Sato, Toshinori Aihara
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  ABSTRACT: We report on a girl with Klippel-Feil anomaly, type Al brachydactyly, and minor facial anomalies. She has an apparently balanced de novo reciprocal translocation between 5q1l.2 and 17q23. The possible significance of this chromosomal abnormality is discussed. © 1995 Wiley-Liss, Inc.
  American Journal of Medical Genetics 06/2005; 57(3):447 - 449.
• Article: Noonan and Klinefelter syndromes in a child

  Alain Verloes, Ornella Guidi, Jacques Frederic, Claude Lambotte, John M. Opitz, James F. Reynolds
  American Journal of Medical Genetics 06/2005; 27(3):727 - 728.
• Article: Partial duplication 8q12→q21.2 in two sibs with maternally derived insertional and reciprocal translocations

  A. P. Walker, M. Bocian, John M. Opitz, James F. Reynolds
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  ABSTRACT: We report on two sibs with duplication of the segment 8ql2→8q21.2 resulting from malsegregation of a maternal insertional translocation: [inv ins (5;8)(pl3;ql2q2l.2)]. The mother also carries a reciprocal translocation [t (l;6)(q31;q5)], which was transmitted in the balanced state to the propositi and to a phenotypically normal son and daughter. The literature on two translocations occurring in one individual and on insertional rearrangements is reviewed in terms of reproductive risks to balanced carriers. The two affected infants have a previously undescribed partial duplication of an interstitial segment of 8q and a pattern of abnormalities distinct from those seen in other partial duplications of 8. These infants are reviewed with 78 other cases of partial duplication of chromosome 8 with regard to phenotype-karyotype correlations.
  American Journal of Medical Genetics 06/2005; 27(1):3 - 22.
• Article: Transient cysts of the fetal choroid plexus: Morphology and histogenesis

  Anwar I. Farhood, James H. Morris, Frederick R. Bieber, John M. Opitz, James F. Reynolds
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  ABSTRACT: In this report, we correlate the clinical and morphologic features of bilateral choroid plexus cysts in three fetuses. These cysts were detected as incidental findings during sonography at 18 to 20 weeks gestation before elective abortion. Two fetuses were normal; the third had trisomy 18. All cysts were present bilaterally in the posterior horns of the lateral ventricles and ranged from 0.5 cm to 1.0 cm in diameter. The walls were translucent, and the cavities were filled with clear serous fluid, except for the left cyst in the third fetus, which was hemorrhagic. The cysts were surrounded by the loose stroma of the choroid plexus. We believe that the formation of these cysts is related to the histogenesis of the choroid plexus. Although such cysts have now been described by sonographers in several fetuses with chromosomal anomalies, this association may reflect ascertainment bias. At this time, we therefore advise caution in interpreting sonographic evidence of isolated choroid plexus cysts as anomalous.
  American Journal of Medical Genetics 06/2005; 27(4):977 - 982.
• Article: Patient with craniosynostosis and marfanoid phenotype (Shprintzen‐goldberg syndrome) and cloverleaf skull

  Howard M. Saal M.D, Dorothy I. Bulas, Jill Fonda Allen, L. Gilbert Vezina, Dawn Walton, Kenneth N. Rosenbaum
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  ABSTRACT: Marfanoid phenotype with craniosynostosis (Shprintzen-Goldberg syndrome) is a rare disorder previously described in only 5 patients. We report on the sixth known patient with this condition. The findings which distinguish our patient from others reported previously are that she was ascertained prenatally as having a cloverleaf skull; this is the first female patient described with this condition. Postnatally, she presented with arachnodactyly, camptodactyly and cloverleaf skull. Imaging studies of the brain documented microcephaly with malformed brain, hydrocephaly, and hypoplasia of the corpus callosum. She also had choanal atresia and stenosis, a clinical finding previously reported only once, in this disorder. © 1995 Wiley-Liss, Inc.
  American Journal of Medical Genetics 06/2005; 57(4):573 - 578.
• Article: Congenital anomalies: Mortality and morbidity, burden and classification

  Chin S. Chung, Ntinos C. Myrianthopoulos, John M. Opitz, James F. Reynolds
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  ABSTRACT: This study has attempted to assess the burden imposed by congenital anomalies in terms of postnatal mortality and morbidity, which were in turn used to classify anomalies as severe and mild types. Factors studied were postnatal mortality through age 7 years and morbidity, as measured by neurologic and psychologic abnormalities, histories of major surgery, prolonged hospitalization, and chronic infections. The study was based on a prospective study of 52,332 liveborn singletons of the Collaborative Perinatal Project of the National Institute of Neurological and Communicative Disorders and Stroke. In general, the highest degree of burden was observed in syndromes and sequences, followed by multiple and single major anomalies. The burden due to major abnormalities as measured by attributable risk ranged from 0.436 for prolonged hospitalization up to one year, to 0.010 for chronic infections in subjects 1–7 years of age. In terms of mortality, the total attributable risk was 0.164, and the mean potential years of life lost was 5,020 per 10,000 population, which is considerably greater than that reported in other studies. An index constructed from mortality, neurologic, psychologic, and surgical variables provides a reasonable and objective means for classifying anomalies into severe and mild types.
  American Journal of Medical Genetics 06/2005; 27(3):505 - 523.
• Article: Short tandem repeat polymorphism linkage studies in a new family with X‐linked mental retardation (MRX20)

  Alice Lazzarini M.S, Edward S. Stenroos, Thomas Lehner, Vershon McKoy, Bert Gold, Michael K. McCormack, Cheryl S. Reid, Jurg Ott, William G. Johnson
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  ABSTRACT: A family with X-linked recessive mental retardation (XLMR) without other obvious manifestations (MRX20) was studied with 14 short tandem repeat polymorphism (STRP) markers. Two-point lod scores above 3 were obtained with DXS1003, DXYS1, DXS3, and DXS458. A multipoint lod score of 4.25 was obtained with peak at DXS1003. Recombination events identify a 55.6 cM interval between DXS1068 and DXS454, while a one unit support interval identifies 40 cM between MAOA and DXS458. © 1995 Wiley-Liss, Inc.
  American Journal of Medical Genetics 06/2005; 57(4):552 - 557.
• Article: Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

  Constance Schrander-Stumpel M.D, Chris Höweler, Marilyn Jones, Annemarie Sommer, Cathy Stevens, Sigrid Tinschert, Jeanette Israel, Jean Pierre Fryns
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  ABSTRACT: X-linked hydrocephalus (HSAS) (MIM *307000), MASA syndrome (MIM *303350), and complicated spastic paraplegia (SPG1) (MIM *312900) are closely related. Soon after delineation, SPG1 was incorporated into the spectrum of MASA syndrome. HSAS and MASA syndrome show great clinical overlap; DNA linkage analysis places the loci at Xq28. In an increasing number of families with MASA syndrome or HSAS, mutations in L1CAM, a gene located at Xq28, have been reported. In order to further delineate the clinical spectrum, we studied 6 families with male patients presenting with MASA syndrome, HSAS, or a mixed phenotype. We summarized data from previous reports and compared them with our data. Clinical variability appears to be great, even within families. Problems in genetic counseling and prenatal diagnosis, the possible overlap with X-linked corpus callosum agenesis and FG syndrome, and the different forms of X-linked complicated spastic paraplegia are discussed. Since adducted thumbs and spastic paraplegia are found in 90% of the patients, the condition may be present in males with nonspecific mental retardation. We propose to abandon the designation MASA syndrome and use the term HSAS/MASA spectrum, incorporating SPG1. © 1995 Wiley-Liss, Inc.
  American Journal of Medical Genetics 06/2005; 57(1):107 - 116.