Polymorphic Detection of a Parthenogenetic Maternal and Double Paternal Contribution to a 46,XX/46,XY Hermaphrodite Jacques C. Giltay, Tibor Brunt, Frits.

Slides:

Advertisements

Similar presentations

Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative Trait Loci Influencing Variation in Human Menopausal Age.

Advertisements

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Bone Marrow Transplant Engraftment Analysis with Loss of an Informative Allele Steven A. Schichman, Pei Lin, Lori J. Gilbrech, Pamela S. Gray, Carla S.

Effects of Updating Linkage Evidence across Subsets of Data: Reanalysis of the Autism Genetic Resource Exchange Data Set Christopher W. Bartlett, Rhinda.

The Ashkenazic Jewish Bloom Syndrome Mutation blmAsh Is Present in Non-Jewish Americans of Spanish Ancestry Nathan A. Ellis, Susan Ciocci, Maria Proytcheva,

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Hendrikus J. Dubbink, Peggy N. Atmodimedjo, Ronald van Marion, Niels M

Jacek Majewski The American Journal of Human Genetics

Zoran Brkanac, Jannine D. Cody, Robin J. Leach, Barbara R. DuPont

Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency Aoi Nakano, Ellen Pfendner,

Abnormal Villous Morphology Associated with Triple Trisomy of Paternal Origin Alexis Norris-Kirby, Jill M. Hagenkord, Malti P. Kshirsagar, Brigitte M.

Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients D. Beltrán-Valero de Bernabé, B. Granadino,

Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental.

Technology requirements for preimplantation genetic diagnosis to improve assisted reproduction outcomes Santiago Munné, Ph.D., Dagan Wells, Ph.D., Jacques.

Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection Claude Danan, Damien Sternberg, André Van Steirteghem,

Bone Marrow Transplant Engraftment Analysis with Loss of an Informative Allele Steven A. Schichman, Pei Lin, Lori J. Gilbrech, Pamela S. Gray, Carla S.

The SPCH1 Region on Human 7q31: Genomic Characterization of the Critical Interval and Localization of Translocations Associated with Speech and Language.

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p

T. Ohta, K. Buiting, H. Kokkonen, S. McCandless, S. Heeger, H

Molecular Cytogenetic Evidence for a Common Breakpoint in the Largest Inverted Duplications of Chromosome 15 A.E. Wandstrat, J. Leana-Cox, L. Jenkins,

The Human Androgen Receptor X-Chromosome Inactivation Assay for Clonality Diagnostics of Natural Killer Cell Proliferations Michaël Boudewijns, Jacques.

Microsatellite Polymorphism in the Heme Oxygenase-1 Gene Promoter Is Associated with Susceptibility to Emphysema Norihiro Yamada, Mutsuo Yamaya, Shoji.

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3 Tarja Joensuu, Riikka Hämäläinen, Bo Yuan, Cheryl Johnson, Saara.

De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,

Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease Alberto Auricchio, Paola.

Identification of an Interstitial Deletion in an Adult Female with Schizophrenia, Mental Retardation, and Dysmorphic Features: Further Support for a Putative.

Structure of the GM2A Gene: Identification of an Exon 2 Nonsense Mutation and a Naturally Occurring Transcript with an In-Frame Deletion of Exon 2 Biao.

High Frequency of Loss of Heterozygosity on Chromosome Region 9p21–p22 but Lack of p16INK4a/p19ARF Mutations in Greek Patients with Basal Cell Carcinoma.

Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome Noriko Miyake, Naohiro Kurotaki,

John D. Rioux, Valerie A. Stone, Mark J

Volume 86, Issue 2, Pages (August 2014)

Kimberly C. Sippel, Rebecca E. Fraioli, Gary D. Smith, Mary E

Neil E. Lamb, Kai Yu, John Shaffer, Eleanor Feingold, Stephanie L

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

Maternal Uniparental Meroisodisomy in the LAMB3 Region of Chromosome 1 Results in Lethal Junctional Epidermolysis Bullosa Yasuko Takizawa, Leena Pulkkinen,

E. Warwick Daw, Simon C. Heath, Ellen M. Wijsman

A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters Franco Laccone, Wilhelm Christian The American.

Amplification Refractory Mutation System, a Highly Sensitive and Simple Polymerase Chain Reaction Assay, for the Detection of JAK2 V617F Mutation in Chronic.

Koji Suzuki, Tania Bustos, Richard A. Spritz

Erratum The American Journal of Human Genetics

Germ-Line Mosaicism in Tuberous Sclerosis: How Common?

Anne Girardet, Ph. D. , Céline Fernandez, B. Sc

Novel Polymorphism in the FMR1 Gene Resulting in a “Pseudodeletion” of FMR1 in a Commonly Used Fragile X Assay Thomas M. Daly, Arash Rafii, Rick A. Martin,

E.J. Hollox, J.A.L. Armour, J.C.K. Barber

Benjamin A. Rybicki, Robert C. Elston

A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion Map Carolyn Schanen, Uta.

Long Homozygous Chromosomal Segments in Reference Families from the Centre d'Étude du Polymorphisme Humain Karl W. Broman, James L. Weber The American.

Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information Tasha E. Fingerlin,

Genetic Analysis of Meiotic Recombination in Humans by Use of Sperm Typing: Reduced Recombination within a Heterozygous Paracentric Inversion of Chromosome.

Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency Margarita Valdes-Flores Journal of Investigative.

Evolutionary History of the ADRB2 Gene in Humans

Volume 58, Issue 6, Pages (December 2000)

Molecular and Clinical Study of 18 Families with ADCA Type II: Evidence for Genetic Heterogeneity and De Novo Mutation P. Giunti, G. Stevanin, P.F. Worth,

Ri-Cheng Chian, Ph.D., Peter S. Uzelac, M.D., Geeta Nargund, M.D.

Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers Nicolas Sévenet, Eammon Sheridan, Daniel Amram, Pascale Schneider,

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome Douglas J.

Volume 93, Issue 1, Pages (April 1998)

2d. Know new combinations of alleles may be generated in a zygote through the fusion of male & female gametes (fertilization)‏ 1.

A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23 Young-Ae Lee, Howard P.

BRCA1 and BRCA2 Testing: Weighing the Demand against the Benefits

The Frequency of Heteroplasmy in the HVII Region of mtDNA Differs across Tissue Types and Increases with Age Cassandra D. Calloway, Rebecca L. Reynolds,

Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN.

Heritability of Cellular Radiosensitivity: A Marker of Low-Penetrance Predisposition Genes in Breast Cancer? S.A. Roberts, A.R. Spreadborough, B. Bulman,

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes Jenny Douglas,

C. E. Browne, N. R. Dennis, E. Maher, F. L. Long, J. C. Nicholson, J

Kit-Sing Au, Adelaide A. Hebert, E. Steve Roach, Hope Northrup

Messages through Bottlenecks: On the Combined Use of Slow and Fast Evolving Polymorphic Markers on the Human Y Chromosome Peter de Knijff The American.

Minimum-Recombinant Haplotyping in Pedigrees

Mechanism and Timing of Mitotic Rearrangements in the Subtelomeric D4Z4 Repeat Involved in Facioscapulohumeral Muscular Dystrophy Richard J.L.F. Lemmers,

Sequence Homology between 4qter and 10qter Loci Facilitates the Instability of Subtelomeric KpnI Repeat Units Implicated in Facioscapulohumeral Muscular.

Presentation transcript:

Polymorphic Detection of a Parthenogenetic Maternal and Double Paternal Contribution to a 46,XX/46,XY Hermaphrodite Jacques C. Giltay, Tibor Brunt, Frits A. Beemer, Jan-Maarten Wit, Hans Kristian Ploos van Amstel, Peter L. Pearson, Cisca Wijmenga The American Journal of Human Genetics Volume 62, Issue 4, Pages 937-940 (April 1998) DOI: 10.1086/301796 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Analysis of completely (a and b) or partially (c) informative markers in the patient (P) and his father (F) and mother (M). The fragment length (in bp) and quantity of the allele are indicated below each peak. a, Analysis of X-chromosomal marker DXS6810. In the patient, the amount of the maternally derived allele (217 bp) and that of the paternally derived allele (213 bp) are 35,301 units and 25,085 units, respectively. These relative maternal and paternal contributions reflect the expected ratio of 50:38 (see Results). b, Analysis of chromosome 18 marker D18S851. Both paternal alleles (259 bp and 275 bp) and one maternal allele (263 bp) are transmitted to the child. Note that, as expected, the total paternal contribution to the child (5,995 + 2,373 = 8,368) is roughly the same as the maternal contribution (9,508). c, Analysis of chromosome 5 marker D5S1470. The mother and father share the 183-bp allele. In the child, the amount of the maternal 171-bp allele (27,587) and the total of the 183-bp and 191-bp alleles (19,398 + 6,827 = 26,225) are roughly the same, indicating that the latter two alleles were derived from the father. Accordingly, the ratio of the paternal alleles (19,398:6,827) reflects the expected 38:12 ratio (see Results). The American Journal of Human Genetics 1998 62, 937-940DOI: (10.1086/301796) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Proposed mechanism to explain early development of the patient described by Strain et al. (1995) (A) and the patient described in this report (B). In both cases, an ovum (M1) is parthenogenetically activated. In the patient described by Strain et al., one of the two haploid maternal cells is fertilized by a normal sperm (P1), whereas the other is diploidized, either sequentially (as shown) or simultaneously. In the patient described in this report, both (identical) haploid maternal cells are fertilized by a normal sperm (P1 and P2). The American Journal of Human Genetics 1998 62, 937-940DOI: (10.1086/301796) Copyright © 1998 The American Society of Human Genetics Terms and Conditions