Microdeletion syndromes ppt

Well recognized syndrome diagnosed by geneticists, cardiologists, otolaryngologists Significant number diagnosed in adulthood Deletion vs. Microdeletion Deletion visible by standard cytogenetic techniques By definition is large (must be a minimum of 1-2 million bases to be visible) Usually severe birth defects, mental retardation and frequently. Some syndromic microdeletion and duplication regions . Xp22.31 STS/KAL del . Incidence of Microdeletion and Duplication Syndromes Syndrome . Incidence . Cause . 1p36 deletion . 1:7500 . Terminal deletion . 1q21.1 deletion (distal) 1:500 . Interstitial deletion (SD) 4p-/Wolf-Hirschhorn Use chrom 9 paint to show that extra material comes from 9 2p to 14q SELECTION: Tisomies 13,18,21 0.09----0.025 ---0.001 Paternal black; maternal red. In AS biparental inheritance with presumed point mutation (UBE3A) May explain different phenotypes in deletion syndromes and in some AD disorders—different severity depending on parent of origin

Microdeletion syndromes involve chromosomal deletions that include several genes, but are too small to be detected by karyotype. They are usually de novo, and tend to recur in the same regions due to homologous recombination of flanking low-copy repeat gene clusters. 16 These low-copy repeats (duplicons) are prone to deletion, duplication, and inversion GG15CH10-Sharp ARI 15 July 2014 13:7 The Genetics of Microdeletion and Microduplication Syndromes: An Update Corey T. Watson,1,2 Tomas Marques-Bonet,3,4,5 Andrew J. Sharp,2,∗ and Heather C. Mefford6,∗ 1Department of Psychiatry and 2Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029; email: andrew.sharp@mssm.ed Digeorge syndrome 1. 22q DELETION SYNDROME MUZAFFAR KHAN ALAM KHAN GROUP-3 STUDENT OFTSMU 2. WHAT? Also known as DIGEORGE SYNDROME or CATCH 22 SYNDROME. It is a Primary immunodeficiency disease.[Autosomal dominant] Disorder caused by a defect in chromosome 22 It results in the poor development of several body systems. The underlying cause is a shrunken or missing thymus gland 15q13.3 microdeletion syndrome is a genetic disorder caused by a deletion of several genes on chromosome 15. When a syndrome is caused by the deletion of several genes, it is also known as a microdeletion syndrome or a contiguous gene deletion syndrome. Individuals with 15q13.3 microdeletion syndrome may have very different signs and symptoms. Microdeletion syndromes have been found to be associated with various psychiatric comorbidities, such as hyperkinetic disorder, autism spectrum disorders, obsessive-compulsive disorders for individuals diagnosed with Prader-Willi syndrome (PWS) (Reference Dykens, Hodapp and Walsh Dykens 1992), or schizophrenia and schizoaffective disorders for individuals with 22q11.2 deletion syndrome.

DiGeorge Syndrome (DGS) is a primary immunodeficiency disease associated with susceptibility to infections due to poor T cell production and function. While DGS is a lifelong condition, it mostly affects infants and children. Depending on the severity of the syndrome, recurrent infections tend to decrease in late childhood and adulthood SUPERIOR VENA CAVA SYNDROME Elesyia D. Outlaw March 9, 2004 SVC Syndrome Constellation of signs and symptoms caused by obstruction of blood flow in the superior vena - A free PowerPoint PPT presentation (displayed as a Flash slide show) on PowerShow.com - id: 3d6333-YTBl

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Microdeletion Syndrome - an overview ScienceDirect Topic

Digeorge syndrome - SlideShar

DiGeorge syndrome 22q11.2 deletion syndrome • Congenital heart disease, defects in the palate, most commonly related to neuromuscular problems ,learning disabilities, mild differences in facial features, Microdeletion confirmed (loss of one red signal) Deleted chromosome - red signal absent Red signal - TUPLE1 (HIRA) locus normal Green. Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions

DiGeorge syndrome, also called 22q11.2 deletion syndrome, is a disorder caused by a defect in chromosome. Patients with DGS may have any or all of the following abnormalities; Unusual facial appearance, Heart defects, Thymus gland abnormalities, Autoimmunity, Parathyroid gland abnormalities DiGeorge syndrome (DGS) is one of a group of phenotypically similar disorders—including velocardiofacial syndrome (VCFS, or Shprintzen syndrome) and conotruncal anomaly face (CTAF) syndrome—that share a microdeletion of chromosome 22q11.2, a region known as the DGS critical region (see the image below). All these syndromes, because of their. We report the use of FISH on buccal smears using cosmid probes for 7q11.23 (WS) and 22q11.2 (22q11 deletion syndrome) for the rapid detection of these two microdeletion syndromes. Six patients known to have a microdeletion (three 7q11 and three 22q11) were compared to eight healthy controls

The del (5q) in the 5q− syndrome is considered to mark the location for a gene (s), the loss of which may affect important processes such as growth control and normal hematopoiesis. 4 The 5q deletion is a large interstitial deletion, and most of the reported deletions fall into 1 of the following 3 types: del (5) (q13q31), del (5) (q13q33. 247200. Autosomal dominant. 4. TEXT. A number sign (#) is used with this entry because Miller-Dieker lissencephaly syndrome is a contiguous gene deletion syndrome involving genes on chromosome 17p13.3. See also the 17p13.3 duplication syndrome (613215), which involves the same chromosomal region. Description

DiGeorge syndrome (DGS) is a condition caused by a microdeletion at location q11.2 of chromosome 22 (thus also called 22q11.2 syndrome). There is a defective development of the third and fourth pharyngeal pouches, leading to thymic and parathyroid hypoplasia (causing T-cell immunodeficiency and hypocalcemia, respectively) Williams-Beuren syndrome. Williams-Beuren syndrome (WBS) is a multisystem disorder with an incidence of 1 in 20,000 births and is caused by a microdeletion on chromosome 7, resulting in the loss of 26-28 genes. Clinical features include a characteristic facial appearance, specific neurocognitive profile and congenital heart disease, most. BACKGROUND Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X inactivation. Haploinsufficiency of the SHOX gene has been reported to cause the short stature seen in Turner syndrome patients. More recently, mutations of this gene.

1q21.1 Microdeletion Syndrome is a chromosome abnormality where a segment of genetic material on the long arm (or q arm) of chromosome 1 at position 21.1 is missing (or deleted) Some people with this deletion have no observable features, while others have variable findings that can include a small head (microcephaly), developmental delay. 158170 - CHROMOSOME 9p DELETION SYNDROME - MONOSOMY 9p SYNDROME Christ et al. (1999) used high-resolution cytogenetics, FISH analysis, and PCR to evaluate the cytogenetic breakpoints in 24 patients with 9p deletion syndrome. Nine of 10 different breakpoints identified were within a 5-Mb region on chromosome 9p23-p22 between D9S1869 and D9S162

15q13.3 microdeletion syndrome Genetic and Rare Diseases ..

Abstract. The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic facial features, microcephaly, and developmental delay. Several congenital defects, including cardiac, ocular, skeletal anomalies, and psychiatric or behavioural abnormalities, have also been described Diagnosis 16p11.2 microdeletion. Common microdeletion in autism/intellectual disability. Diagnostic yield for microarray 15-20%. Deletions not identified through gene panel/exome. Deletion calling from panel/exome. In development, not ready for prime time ye Structural Abnormalities Deletions Translocations Inversions Duplications Deletions Loss of chromosomal material Large-scale deletions are lethal Example: Cri du chat Deletion of short arm of chromosome 5 Affects motor and mental function Infant cry resembles a meowing cat Specific chromosomal break points are associated with specific phenotypic changes Cri du chat Syndrome Structural. Title: PowerPoint Presentation Author: gregory carey Created Date: 9/7/2004 7:13:07 PM Document presentation format: On-screen Show Company: Kearns-Sayre Syndrome Charles Shepherd Bio 313 Background Rare neuromuscular disorder Only 226 cases reported in literature Effects mitochondria Large duplications or deletions in mitochondrial DNA (>1000bp) results in under or over production of mitochondrial gene products 1/3 cases 4977bp deletion Randomly effects people only isolated reports.

Microdeletion syndromes and psychiatry: An update

DiGeorge Syndrome - SlideShar

22q11.2 deletion syndrome is referred to by other names in the literature, as well as in clinical reporting: 22q deletion syndrome, DiGeorge syndrome or Velocardiofacial (VCF) syndrome are alternate references. Most common microdeletion syndrome resulting from loss of a small segment of the long arm of chromosome 2 Animals: Cat-eye syndrome (tetrasomy 22q, trisomy 22q) Cri-du-chat syndrome (deletion 5p) LEOPARD syndrome (Noonan with multiple lentigines) Misc: Michelin tire baby (familial constriction rings) Mongoloid, -ism (Down syndrome) Coeur en sabot (tetralogy of Fallot) Crepe paper, cigarette rolling paper (skin) Ash leaf (macule) Shagreen (verrucous.

Turner Syndrome occurs in one out of every 5000 live female births and the diagnosis is usually based on the clinical presentation. In the last 9 years, 17 of 1681 patients who underwent cytogenetic evaluation to investigate uncertain chromosomal anomaly had Turner syndrome. However, patients with a deletion of Xp have short stature and. The deletion of Chromosome 22q11.2, for example, causes the Velocardiofacial syndrome (Shprintzen syndrome-Cleft palate, cardiac anomalies, typical facies, and learning disabilities). Trisomies 13 and 18, and the 4p- are other chromosomal abnormalities leading to different syndromes often found with oral clefts

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General Discussion. Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene. Although the range and severity of symptoms may vary, PMS is generally thought to be characterized by neonatal hypotonia (low muscle tone in the newborn), normal. Angelman Syndrome Antoinette Benton ----- Definition . Angelman Syndrome is a complex of recognizable clinical findings due to abnormal function in the UBE3A gene located on chromosome 15. It was originally called the happy puppet syndrome because of the puppet-like jerky gait, hand-flapping, and the tendency to smile and laugh almost. The 22q11.2 deletion syndrome (22q11.2DS) is caused by a microdeletion on chromosome 22, which includes the GPIbβ gene, and is characterized by abnormal development of the pharyngeal apparatus and heart. Thus, patients with 22q11.2DS are obligate carriers for BSS. Method 5q minus syndrome - deletion of part of chromosome 5 associated with acquired MDS TYPES OF MUTATIONS - CHROMOSOMES Jacqueline Boultwood et al. Blood 2010;116:5803-5811 TYPES OF MUTATIONS - NUCLEOTIDES Gene Chromosome PowerPoint Presentation.

PPT - Chromosome 22q11 Deletion Syndromes PowerPoint


  1. Genetics and genetic counselling. The 22q11.2 deletion is a 1.5 to 3 megabase deletion on the long (q) arm of chromosome 22. The deletion contains TBX1, the major candidate gene, and other genes controlling the 3rd and 4th pharyngeal arches, brain and skeletal development
  2. Koolen-De Vries syndrome is a rare genetic condition caused by partial loss of part of chromosome 17 [17q21.31 microdeletion], including the gene called KANSL1. It can also be caused by a change in the KANSL1 gene. These. genetic changes can cause developmental delay, learning difficulties, and
  3. Chapter 15 - Chromosomal Basis Of Inheritance 874165 PPT. Presentation Summary : Deletions A deletion is when a piece of a chromosome is lost. This can be very bad because if that missing piece contains important genes, the phenotype of th
  4. ant mutation in this regard. But the deletion is lethal when homozygous and therefore acts as a recessive in regard to its.

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  1. Chromosome 5q deletion syndrome is an acquired, hematological disorder characterized by loss of part of the long arm (q arm, band 5q33.1) of human chromosome 5 in bone marrow myelocyte cells. This chromosome abnormality is most commonly associated with the myelodysplastic syndrome.. It should not be confused with partial trisomy 5q, though both conditions have been observed in the same family
  2. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct complex disorders mapped to chromosome 15q11-q13. They both have characteristic neurologic, developmental, and behavioral phe- can result from microdeletion, uniparental disomy, or an imprinting center defect in 15q11-q13, althoug
  3. Y chromosome microdeletion (YCM) is a family of genetic disorders caused by missing gene(s) in the Y chromosome.Many men with YCM exhibit no symptoms and lead normal lives. However, YCM is also known to be present in a significant number of men with reduced fertility. Men with reduced sperm production (in up to 20% of men with reduced sperm count, some form of YCM has been detected) varies.

Microdeletion and Microduplication Syndromes - Pediatrics

  1. A diagnosis of Smith-Magenis syndrome is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized genetic tests. The diagnosis of SMS is confirmed when deletion 17p11.2 (cytogenetic analysis or microarray) or RAI1 gene mutation is identified
  2. Introduction to the 1p36 deletion syndrome - how individuals get chromosomes with missing DNA; 1p36 deletion syndrome stands for the following: 1 is the chromosome number that has deleted DNA, p is the short arm of the chromosome (shortest length of DNA above the centromere) that contains designated area 36 that is missing DN
  3. About WAGR Syndrome. WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes located on chromosome number 11. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental retardation
  4. Meet Miss Kinley 48 Little Miss Kinley was born without a Thymus, leaving her with only 20% of a normal immune system and congenital heart defects. Diagnosed with 22q11.2 Deletion Syndrome (DiGeorge Syndrome). Now 6 years old, she has had two open heart surgeries and will require more as she grows

The discovery of microdeletion syndromes in the post

History. The most common reason to suspect 22q11.2DS (chromosome 22q11.2 deletion syndrome; DiGeorge syndrome [DGS]) is a cardiac anomaly, especially a conotruncal one. Neonatal hypocalcemia should also raise suspicion for this syndrome, especially if the hypocalcemia or heart defect is coupled with cleft palate Myelodysplastic syndrome subtypes include: Myelodysplastic syndromes with single-lineage dysplasia. One blood cell type — white blood cells, red blood cells or platelets — is low in number and appears abnormal under the microscope. Myelodysplastic syndromes with multilineage dysplasia. In this subtype, two or three blood cell types are. Ehlers-Danlos syndrome. Ehlers-Danlos syndrome, arthrochalasia type. Ehlers-Danlos syndrome, classical type. Ehlers-Danlos syndrome, dermatosparaxis type. Ehlers-Danlos syndrome, hypermobility type. Ehlers-Danlos syndrome, kyphoscoliosis type. Ehlers-Danlos syndrome, vascular type. achondrogenesis, type 2. collagenopathy, types II and XI.

DiGeorge Syndrome is a primary immunodeficiency disease caused by abnormal migration and development of certain cells and tissues during fetal development. As part of the developmental defect, the thymus gland may be affected and T-lymphocyte production may be impaired, resulting in low T-lymphocyte numbers and frequent infections. Definition of DiGeorge Syndrome DiGeorg Prader-Willi syndrome - microdeletion of paternal 15q Williams syndrome - microdeletion of 17 Cri du chat syndrome - partial deletion of 5 . Autosomal dominant disorders PowerPoint Presentation Author: Heather Created Date: 2/8/2014 12:50:43 PM. Chromosomal Abnormalities. Normally, humans have 23 pairs of chromosomes - making 46 in total. This includes one pair of chromosomes which are the sex chromosomes. The ova and the sperm each carry 23 chromosomes. Chromosomal abnormalities occur when there is a defect in a chromosome, or in the arrangement of the genetic material on the chromosome

1q21.1 microdeletion: MedlinePlus Genetic

deleted chromosome 5 in a patient with cri du chat syndrome, with a deletion breakpoint in band p15:: break and join: 2pter-->2q21::8p13-->8pter: Description of der(2) portion of t(2,8) / mosaicism: 46,XX/47,XX,+8: Female with two populations of cells, a normal karyotype and one with trisomy PTEN hamartoma tumor syndrome (PHTS) includes a group of clinical disorders caused by alterations in the PTEN gene. In the past, these clinical disorders were called by one of several names, including: Although CS, BRRS, and PS were once considered to be separate syndromes, any patient found to carry a PTEN mutation, regardless of their.

The significant role of RUNX1 in megakaryopoiesis and leukemogenesis was further supported by the finding that haploinsufficiency of the RUNX1 gene is the genetic basis of the autosomal dominant familial platelet disorder with predisposition to acute myelogenous leukaemia (FPD/AML; MIM 601399). 9 Similar to patients with the FPD/AML syndrome, there was an approximately 15% reduction in the. Rett syndrome is a neurodevelopmental disorder that affects girls almost exclusively. It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the band 4p16.3 and this deletion may be submicroscopic. The craniofacial phenotype (microcephaly, hypertelorism, prominent glabella, broad and/or beaked nose, short philtrum, micrognathia, downturned corners of the mouth, dysplastic ears, preauricular tags

Post-Polio Syndrome. Diagnostic Criteria: Clinical History of polio. Partial or complete neurological & functional recovery; Stable function > 15 years Onset of Fatigue Muscle pain Functional loss Usually 2° Musculoskeletal disorder New weakness is rare Neurological examination Lower motor neuron syndrome (confirmed by EMG or MRI Miller-Dieker Syndrome, classical lissencephaly, lissencephaly type 1, LIS1 gene, microdeletion, chromosome 17 Definition Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (aka lissencephaly type 1) and distinct facial features. Additional congenita

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Prader-Willi syndrome (PWS) (OMIM 176270) is caused by the loss of paternal gene expression in the 15q11-q13 region. The disease is characterized by diminished fetal activity, severe postnatal hypotonia, failure to thrive in infancy followed by hyperphagia, obesity, developmental delay, and hypogonadism. PWS may result from a microdeletion of. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due. Introduction to NIFTY®. The NIFTY® test is a non-invasive prenatal test (commonly termed an NIPT) that screens for Down Syndrome and certain other genetic conditions caused by extra or missing genetic information in the baby's DNA. It's important to note that all NIPTs like NIFTY®, are screening tests and are not classified as diagnostic Chromosome 22q11.2 Deletion Syndrome (22q11DS) is a disease caused by microdeletions in the chromosome 22q11.2 region, the most common interstitial deletion in humans, occurring in approximately one in 2000 to 4000 births. [1-3]. There are approximately 60 known genes in the 3-megabase (Mb) deletion region, which ∼87% of 22q11DS patients possess, and 35 known genes in the 1.5Mb region. Down syndrome is an anomaly of chromosome 21 that can cause intellectual disability, microcephaly, short stature, and characteristic facies. Diagnosis is suggested by physical anomalies and abnormal development and confirmed by cytogenetic analysis. Management depends on specific manifestations and anomalies

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Wolf-Hirschhorn syndrome: MedlinePlus Genetic

Cri-du-chat (kree-doo-shah) Also known as chromosome 5p deletion syndrome, Lejeune's syndrome, and cat cry syndrome. The name was chosen because when a baby is born there cry resembles a cats cry and this is how they determine if the child has a disease Genetic Disease & Syndromes. Smith-Magenis Syndrome. Deletion on chromosome 17. Broad and square face. Short stature. Self-injurious behavior . Genetic Disease & Syndromes. AngelMan Syndrome. Deletion on . M. aternal. chromosome 15. 3. S PowerPoint Presentation Last modified by * * * Figure 15.15 Down syndrome. * Figure 15.15 Down syndrome. * Figure 15.15 Down syndrome. results from a specific deletion in chromosome 5 A child born with this syndrome is mentally retarded and has a catlike cry; individuals usually die in infancy or early childhood Certain cancers, including chronic myelogenous leukemia (CML), are.

DiGeorge Syndrome Mexico PDF PPT Case Reports

Down syndrome is caused by trisomy 21 (3 copies of chromosome 21). 95% of Down syndrome cases are associated with nondisjunction and shows no familial recurrence. The other 5% (familial Down syndrome) is attributed to Robertsonian translocation between chromosome 21 and chromosome 14 Evidence that SRY is the testis determining factor SRY is detected in gender reversal: XX males who have a translocation of the sry region to an X or another chromosome XY females who have a deletion of the SRY region In transgenic mice, a 14 kb genomic DNA encoding SRY can transform XX females into phenotypic males Turner syndrome is a chromosomal disorder characterized by a complete or partial absence of the second sex chromosome. What is Turner Syndrome (TS)? Chromosomal disorder. Affects one in 2,000 - 2,500 female births. . Approximately 80,000 in United States. . 800 new cases diagnosed each year Turners. Syndrome CHROMOSOMAL ABNORMALITY The condition of having an abnormal number of chromosomes, or having chromosomes with missing or extra pieces.. Turners Syndrome Turners Syndrome is caused by nondisjunction. Turner syndrome is a chromosomal condition related to the X chromosome also called X0 syndrome. Females who have Tuners Syndrome are missing one of their X chromosomes in each cell

Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7 at the time of conception. The deletion can occur in either the egg or the sperm. It is likely that the elastin gene In most families, the child with Williams syndrome is the only one to have the condition in his or her entire extended family Ehlers-Danlos syndromes are a group of connective tissue disorders that can be inherited and are varied both in how affect the body and in their genetic causes. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility The result is a silent gene mutation at codon 608 of Gly608Gly to Gly608Gly which results in an in-frame deletion of 150 nucleotides and 50 amino acids including sites required to process prelamin A to mature lamin A protein The atypical mutation of HGPS can arise through a mutation on chromosome 1q at position 1822 of a Guanine to Adenine, a. Lynch syndrome (LS) is an adult-onset, cancer predisposition syndrome. It is caused by a mutation in one of the genes involved in the mismatch repair (MMR) pathway. Individuals with LS are at increased risk for colorectal and other cancers, including endometrial, ovarian, gastric, small bowel, bladder, urothelial, pancreas, biliary tract.