Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3) Elke Holinski-Feder, Edwin Reyniers,

Slides:

Advertisements

Similar presentations

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 Edwin Reyniers, Patrick Van Bogaert,

Advertisements

Dr. Nasser A Elhawary Professor of Medical Genetics

FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male Ewa Wiland, Alexander.

Volume 208, Issue 4, Pages (April 2015)

Lisa Edelmann, Raj K. Pandita, Bernice E. Morrow

Tracy I. George, Joanna E. Wrede, Charles D. Bangs, Athena M

Microarray-Based Comparative Genomic Hybridization Using Sex-Matched Reference DNA Provides Greater Sensitivity for Detection of Sex Chromosome Imbalances.

Ilse Feenstra, Lisenka E. L. M. Vissers, Ronald J. E

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

Der(22) Syndrome and Velo-Cardio-Facial Syndrome/DiGeorge Syndrome Share a 1.5- Mb Region of Overlap on Chromosome 22q11 B. Funke, L. Edelmann, N. McCain,

J. Catalán, K. Autio, E. Kuosma, H. Norppa

Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families Tamim H. Shaikh, Marcia L. Budarf, Livija.

Volume 7, Issue 5, Pages (November 2016)

Recombination between Palindromes P5 and P1 on the Human Y Chromosome Causes Massive Deletions and Spermatogenic Failure Sjoerd Repping, Helen Skaletsky,

Multiplex-FISH for Pre- and Postnatal Diagnostic Applications

Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females

Identification of Combinatorial Genomic Abnormalities Associated with Prostate Cancer Early Recurrence Xiaoyu Qu, Claudio Jeldres, Lena Glaskova, Cynthia.

Limitations of Chromosome Classification by Multicolor Karyotyping

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

Ali Sazci, Ph. D. , Nesrin Ercelen, M. D. , Emel Ergul, M. S

A Multicolor FISH Assay Does Not Detect DUP25 in Control Individuals or in Reported Positive Control Cells Yanina Weiland, Jürgen Kraus, Michael R. Speicher

Mariana Moysés-Oliveira, M. Sc. , Roberta dos Santos Guilherme, M. Sc

Inconspicuous Insertion 22;12 in Myxoid/Round Cell Liposarcoma Accompanied by the Secondary Structural Abnormality der(16)t(1;16) Nathan C. Birch, Cristina.

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

Rapid comparative genomic hybridization protocol for prenatal diagnosis and its application to aneuploidy screening of human polar bodies Christina Landwehr,

Karyotype determination and reproductive guidance for short stature women with a hidden Y chromosome fragment De-Hua Cheng, Fei Gong, Ke Tan, Chang-Fu.

Comprehensive meiotic segregation analysis of a 4-breakpoint t(1;3;6) complex chromosome rearrangement using single sperm array comparative genomic hybridization.

Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities Jorune Balciuniene, Ningping Feng, Kelly.

Crypt Y chromosome fragment resulting from an X;Y translocation in a patient with premature ovarian failure De-Hua Cheng, M.Sc., Yue-Qiu Tan, Ph.D.,

Daynna J. Wolff, Adam Bagg, Linda D. Cooley, Gordon W. Dewald, Betsy A

Kathleen M. Murphy, Julie S. Cohen, Amy Goodrich, Patricia P

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome Damien Lederer, Bernard Grisart, Maria Cristina.

X-Linked Congenital Hypertrichosis Syndrome Is Associated with Interchromosomal Insertions Mediated by a Human-Specific Palindrome near SOX3 Hongwen.

Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation Janine Wagenstaller, Stephanie.

Array Comparative Genomic Hybridization Detects Chromosomal Abnormalities in Hematological Cancers That Are Not Detected by Conventional Cytogenetics

An Optimized Probe Set for the Detection of Small Interchromosomal Aberrations by Use of 24-Color FISH Jorge Azofeifa, Christine Fauth, Jürgen Kraus,

Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome Thomas Fernandez, Thomas Morgan, Nicole Davis,

The Detection of t(14;18) in Archival Lymph Nodes

High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage

Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected.

Renpenning Syndrome Maps to Xp11

A Novel 22q11.2 Microdeletion in DiGeorge Syndrome

Meiotic Studies of a Human Male Carrier of the Common Translocation, t(11;22), Suggests Postzygotic Selection rather than Preferential 3:1 MI Segregation.

Erratum The American Journal of Human Genetics

Contribution of SHANK3 Mutations to Autism Spectrum Disorder

Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a.

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 Edwin Reyniers, Patrick Van Bogaert,

Large Clinically Consequential Imbalances Detected at the Breakpoints of Apparently Balanced and Inherited Chromosome Rearrangements Sarah T. South,

Vandana Shashi, Margaret N. Berry, Sarah Shoaf, James J

Disruption of ERBB2IP Is not Associated with Dystrophic Epidermolysis Bullosa in Both Father and Son Carrying a Balanced 5;13 Translocation Margarita.

Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22) Hiroki Kurahashi, Tamim H. Shaikh,

The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity Ina Fickelscher, Thomas Liehr, Kathryn.

Fluorescence In Situ Hybridization Identifies Cryptic t(16;16)(p13;q22) Masked By del(16)(q22) in a Case of AML-M4 Eo Shakil H. Merchant, Skip Haines,

Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution Richard.

Der(22) Syndrome and Velo-Cardio-Facial Syndrome/DiGeorge Syndrome Share a 1.5- Mb Region of Overlap on Chromosome 22q11 B. Funke, L. Edelmann, N. McCain,

Karyotyping of human metaphase II oocytes by multifluor fluorescence in situ hybridization Julie M Clyde, Ph.D., Jan E Hogg, M.Sc., Anthony J Rutherford,

Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring Mirjam S.

The DNA-Based Structure of Human Chromosome 5 in Interphase

Chromosomal Instability at Common Fragile Sites in Seckel Syndrome

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

Genetic Characterization of a Human Skin Carcinoma Progression Model: from Primary Tumor to Metastasis Susanne Popp, Stefan Waltering, Petra Boukamp

Preimplantation genetic diagnosis for a carrier of a Y;autosome translocation resulting in a healthy male offspring Caroline Mackie Ogilvie, D.Phil.,

Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier Franck Pellestor, Ph.D., Jacques.

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

Anupama Srinivasan, Diana W. Bianchi, Hui Huang, Amy J

A 22q11.2 Deletion That Excludes UFD1L and CDC45L in a Patient with Conotruncal and Craniofacial Defects Sulagna C. Saitta, James M. McGrath, Holly Mensch,

Swyer Syndrome and 46,XY Partial Gonadal Dysgenesis Associated with 9p Deletions in the Absence of Monosomy-9p Syndrome R.A. Veitia, M. Nunes, L. Quintana-Murci,

Frances R. Goodman, Frank Majewski, Amanda L. Collins, Peter J

High-Resolution Identification of Chromosomal Abnormalities Using Oligonucleotide Arrays Containing 116,204 SNPs Howard R. Slater, Dione K. Bailey, Hua.

Patterns of Meiotic Recombination in Human Fetal Oocytes

Presentation transcript:

Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3) Elke Holinski-Feder, Edwin Reyniers, Sabine Uhrig, Astrid Golla, Jan Wauters, Peter Kroisel, Paul Bossuyt, Imma Rost, Kerry Jedele, Hannelore Zierler, Sieglinde Schwab, Dieter Wildenauer, Michael R. Speicher, Patrick J. Willems, Thomas Meitinger, R. Frank Kooy The American Journal of Human Genetics Volume 66, Issue 1, Pages 16-25 (January 2000) DOI: 10.1086/302703 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of family and haplotype analysis for markers at chromosomes 16p13.3 and 3q29. The gray bars represent chromosome 3q sequences; the white bars, 16p sequences. The American Journal of Human Genetics 2000 66, 16-25DOI: (10.1086/302703) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Facial photograph of patient V-5. Note hypertelorism, broad nasal bridge, and down-slanting palpebral fissures but absence of specific dysmorphic features. The American Journal of Human Genetics 2000 66, 16-25DOI: (10.1086/302703) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 a, Balanced translocation t(3;16)(q29;p13.3) in carrier IV-4. Metaphase spread was hybridized with subtelomere probes 3p and 3q (blue), 16q (green), and 16p (red). b, Unbalanced karyotype in individual V3. Metaphase spread was hybridized with subtelomere probes 3p and 3q (blue), 16q (green), and 16p (red) show trisomy of the tip of 3q and monosomy of the tip of 16p. The American Journal of Human Genetics 2000 66, 16-25DOI: (10.1086/302703) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 4 Pachytene analysis of the quadrivalent complex of the translocated and the normal chromosomes during meiosis I. The crossover that is noticed in individual IV-4 is indicated. This recombination explains why the 3q haplotype in patient IV-4 is different from that in the other patients. The American Journal of Human Genetics 2000 66, 16-25DOI: (10.1086/302703) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 5 Retrospective partial karyotypes of carrier IV-5, showing no abnormalities on tips of chromosome 3q and 16p. The two chromosomes 3 (a and b) and 16 (c and d) and one X chromosome (e) from one of the carriers of the balanced t(3;16) after M-FISH hybridization are shown. The first column shows the inverted DAPI image, the second column the chromosomes in classification colors. Columns three to five display the individual fluorochrome channels. Chromosome 3 is labeled with a combination of Cy3, Cy3.5, and Cy5.5, chromosome 16 with a combination of FITC and Cy5. Therefore, on one of the two long arms of chromosome 3, additional bands in the FITC and Cy5 channels should be visible and, correspondingly, one of the short arms of chromosome 16 should display additional bands in the Cy3, Cy3.5, and Cy5.5 channels. However, none of these bands are visible. As an approximate measure for the resolution, an X chromosome from the same metaphase spread is shown (e). Because of the different labeling of the X chromosome (Cy3 and Cy5.5) and the Y chromosome (FITC, Cy3.5, and Cy5.5) in the M-FISH mix, additional bands are visible on the X chromosome in the FITC and Cy3.5 channels. These bands represent the first pseudoautosomal region at Xp22.3 (size 2.6 Mb small arrows) and the XY homology region at Xq21.3 (size 4 Mb large arrows). The second pseudoautosomal region at Xq28 is too small (320 kb) to be detected. High-resolution banding of chromosomes 3 and 16 (f) demonstrates that the translocation is cytogenetically invisible. The American Journal of Human Genetics 2000 66, 16-25DOI: (10.1086/302703) Copyright © 2000 The American Society of Human Genetics Terms and Conditions