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13q deletion syndrome

This disease is also known as: 13q- Syndrome, Partial, Deletion 13q Syndrome, Partial Monosomy 13q, Partial Partial Monosomy of the Long Arm of Chromosome 1 SummarySummary. Chromosome 13q deletion is a chromosome abnormality that occurs when there is a missing ( deleted) copy of genetic material on the long arm (q) of chromosome 13. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved In cases of Partial Monosomy 13q, the deletion of a portion of chromosome 13q is responsible for the symptoms and findings that characterize this chromosomal disorder. The range and severity of associated abnormalities may depend upon the exact length and location of the deleted portion of chromosome 13q

chromosome 13q deletion syndrome Archives - Global Genes

13q deletion syndrome - Wikipedi

One child with a simple 13q34 deletion has a condition known as combined hamartoma of the retina and retinal pigment epithelium, in which the retina is wrinkled and contains tortuous blood vessels. Treatment with cryotherapy may prevent haemorrhage. Behaviour The Unique series is not large enough to suggest any consistent effect on behaviour Given that myelodysplastic syndrome-unclassified with del(13q) is a benign bone marrow failure subset characterized by good response to immunosuppressive therapy and a high prevalence of increased glycosylphosphatidylinositol-anchored protein-deficient cells, del(13q) should not be considered an intermediate-risk chromosomal abnormality 13q deletion syndrome is defined by clinical features associated to partial deletion of long arm of chromosome 13. It was first described in 1963 for patients with mental and growth retardations and retinoblastoma, and consequently delineated as a specific syndrome in 1969

Additional characteristics in patients with 13q deletion syndrome include moderate to severe mental retardation or psychomotor delay, muscular hypotonia, seizures, growth delay, craniofacial dysmorphic features and various congenital defects of the brain, eye, gastrointestinal tract, urogenital tract, kidney and heart [ 6, 7 ] The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007). Clinical Features

13Q deletion syndrome is a chromosome disorder where one of the arms or the whole arm of the chromosome is missing at birth. This chromosome disorder was first diagnosed about 20 years ago. Depending on which band of the arm is missing, many symptoms can occur. Not all those diagnosed will have the below symptoms 13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. It causes intellectual disability and congenital malformations that affect a variety of organ systems. Signs and symptoms. Different areas of deletion are associated with different symptoms The 13q-deletion syndrome. Allderdice PW, Davis JG, Miller OJ, Klinger HP, Warburton D, Miller DA, Allen FH Jr, Abrams CA, McGilvray E. PMCID: PMC1706574 PMID: 5347076 [PubMed - indexed for MEDLINE] MeSH Terms. Abnormalities, Multiple; Adult; Aneuploidy* Autoradiography; Chromosome Aberrations* Chromosome Disorders* Chromosomes, Human, 13-15*/metabolis 13q Deletion Syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary

Chromosome 13q deletion Genetic and Rare Diseases

The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retardation, craniofacial dysmorphisms, congenital malformations, and increased risk of retinoblastoma. Here, we report on a teenage boy with a mild phenotype characterized by obesity. Did you know... that 13q deletion syndrome can cause imperforate anus? A record of the entry may be seen at Wikipedia:Recent additions/2015/August. The nomination discussion and review may be seen at Template:Did you know nominations/13q deletion syndrome

Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra () copy of genetic material on the long arm (q) of chromosome 13.The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 13q duplication include developmental delay. La délétion du bras long du chromosome 13 est une pathologie génétique rare en rapport avec une perte de matériel génétique de l'un des 46 chromosomes. La perte de matériel chromosomique augmente le risque de malformations à la naissance et de retard dans le développement et la croissance de l'enfant Chromosome 18q- syndrome (also known as Chromosome 18, Monosomy 18q) is a rare chromosomal disorder in which there is deletion of part of the long arm (q) of chromosome 18. Associated symptoms and findings may vary greatly in range and severity from case to case. However, characteristic features include short stature; mental retardation; poor. People with 10q26 deletion syndrome often have delayed development of speech and of motor skills such as sitting, crawling, and walking. Some have limited speech throughout life. Affected individuals may experience seizures, attention-deficit/hyperactivity disorder (ADHD), poor impulse control (impulsivity), or exhibit autistic behaviors that affect communication and social interaction Chromosome 13q deletion syndrome, a rare genetic disorder, is characterized by partial deletions of one of the long arms of chromosome 13, which leads to a number of human birth defects. The clinical symptoms vary widely among patients and may include, developmental delays.

Chromosome 13, Partial Monosomy 13q - NORD (National

  1. 13q deletion syndrome Signs and symptoms. Defects of the endocrine system, digestive system and genitourinary system are also common. These... Causes. Although one can inherit 13q deletion syndrome, the most common way to obtain the disease is through genetic... Diagnosis. Family and medical history.
  2. A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation
  3. ed by conventional metaphase analysis, 1,2,3.
  4. al deletion with associated subclinical deficiency of Factors Written permission for submission of this case report for publication was obtained from the patient's parents. *Correspondence to: Michael P. Hewson, Neonatal Unit, Wellingto
  5. Deletion of 13q14.3 (del(13q)) is the most common cytogenetic abnormality in chronic lymphocytic leukemia (CLL) and implies a favorable prognosis. We explored the feasibility of detecting del(13q) by real-time quantitative polymerase chain reaction (PCR) for miR-15a and miR-16-1 , whose loci are located in the deleted region

Chromosome 13q was screened with locus specific FISH probes and breakpoints were determined at 13q22.1q31.3 in Patients I and 3, and at 13q21.1q31.3 in Patient 2. An EDNRB specific FISH probe was deleted in all three patients. All patients had common facial features seen in proximal 13q deletion syndrome and mild mental retardation 3q29 microdeletion syndrome is caused by the loss of a small piece of DNA in one copy of chromosome 3, one of the 23 pairs of chromosomes in each cell in our bodies. Most cases of 3q29 microdeletion syndrome are de novo, which means the deletion was not passed down from either parent متلازمة حذف 13q 13q deletion syndrome; متلازمة حذف 13q هي مرض وراثي نادر ينتج عن حذف بعض أو كل الكروموسوم البشري 13، مما يؤدي إلى تشوهات خلقية أو إعاقات ذهنية ومما يسبب خللًا في بعض الأعضاء الجسدية Today's guest post on Monosomy 13q Syndrome is brought to you by the ever talented Maria Del Duca, M.S. CCC-SLP of Communication Station: Speech Therapy, PLLC, located in southern Arizona. Overview: Also known as 13q Deletion Syndrome, this is a chromosomal disorder that results in intellectual disabilities as well as congenital malformations of the skeleton, heart, brain [ Keywords: 13q deletion syndrome, 13q33-34 deletion, Chromosome 13, Renal hypoplasia, Congenital heart disease Background 13q deletion syndrome is a rare genetic disorder caused by the deletion of the long arm of chromosome 13 [ 1, 2]. It was first reported in patients wit h mental and growth retarda-tions in 1963 [3]

Favorable outcome of patients who have 13q deletion: a

DELETION 13Q SYNDROME 13Q SYNDROME) - YouTube

Twelve new patients with 13q deletion syndrome: Genotype

Chromosome 13q deletion syndrome involving 13q31qter: A case report. Mol Med Rep 15(6): 3658-3664. Health Created by Stacey6 Last updated 2 Jan 2021, 11:09 PM Posted by Stacey6 2 Jan 2021, 11:09 PM Hello to everyone,compliment of the season to everybody and wishes you what you wish yourself but we're assuring you to contact for your medical 22q11-deletionsyndromet, även kallat CATCH 22, CATCH 22-syndromet, Conotruncal anomaly face syndrome, DiGeorges syndrom, Shprintzens syndrom och Velo-kardio-facialt syndrom, är ett syndrom med en komplex symptombild som orsakas av en kromosomavvikelse, en deletion, i den långa armen i kromosompar 22

Chromosome 13q Duplication Syndrome is caused by translocation of genetic material between chromosome 13q (end) and another chromosome. This translocation can occur sporadically, resulting in a set of chromosomes that is different from the one an individual is born wit Lamb-Shaffer syndrome (LSS) chromosome 12p12.1 deletion. 09 Apr 2021. Chromosome Disorder Outreach Winter - Spring 2021 Newsletter. 25 Mar 2021. Contact Us. Chromosome Disorder Outreach, Inc. P.O. Box 724 Boca Raton, FL 33429-0724 info@chromodisorder.org. Helpline (561) 395-4252 Contact form

13q syndrome is a chromosomal abnormality in which there is a pathognomic deletion of the genetic material on the long arm (q) of chromosome 13. Phenotypes of this syndrome are variable depending on the location of the deleted segment. The main manifestations of the syndrome include mental retardation, craniofacial dysmorphism, and increased susceptibility to tumors Sindrome da delezione 13q - 13q deletion syndrome. Da Wikipedia, l'enciclopedia libera . Sindrome da delezione 13q ; La sindrome da delezione 13q è ereditata in maniera autosomica dominante : La sindrome da delezione 13q è una malattia genetica rara causata dalla delezione di alcuni o tutti i grandi bracci del cromosoma umano 13 Select categories you would like to watch. Updates to this gene will be send to {{ username }

13q deletion syndrome resulting from balanced chromosomal

This page is based on the copyrighted Wikipedia article 13q_deletion_syndrome (); it is used under the Creative Commons Attribution-ShareAlike 3.0 Unported License.You may redistribute it, verbatim or modified, providing that you comply with the terms of the CC-BY-SA Chromosome 13q deletion syndrome involving 13q31‑qter: A case report YUE‑PING WANG1, DA‑JIA WANG2, ZHI‑BIN NIU2 and WAN‑TING CUI1 Departments of 1Clinical Genetics and 2Pediatric Surgery, Shengjing Hospital Affiliated to China Medical University, Heping, Shenyang, Liaoning 110004, P.R. China Received December 25, 2015; Accepted January 27, 2017 DOI: 10.3892/mmr.2017.6425 Abstract Clinical Variability of Waardenburg-Shah Syndrome in Patients With Proximal 13q Deletion Syndrome Including the Endothelin-B Receptor Locus. American Journal of Medical Genetics. Part A . 149A(10):2290-2295 13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13.Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary.It has the potential to cause intellectual disability and congenital malformations that affect a variety of organ systems Growth delay is a constant symptom of the 13q deletion syndrome therefore hormonal tests haven't been performed. Visits were discontinued from 2008 to 2013. At the age of 11 years and 7 months she appeared again presenting facial dismorphic features, scoliosis, lumbar hyperlordosis, weak postural and limb muscles, fifth toe clinodactyly, Ax1, Pub1, Th1, Me (−)

OMIM Entry - # 613884 - CHROMOSOME 13q14 DELETION SYNDROM

  1. 13q Deletion syndrome Back to A-Z Conditions Top. About Contact. Contact is a trading name of Contact a Family. Charity registered in England and Wales (284912) and Scotland (SC039169). Company limited by guarantee registered in England and Wales (1633333). VAT registration GB 749 3846 82
  2. 13q deletion syndrome; Chromosome 13q deletion; Chromosome 13q monosomy; Chromosome 13q syndrome; Deletion 13q; Monosomy 13q; Monosomy 13q syndrome; Orbeli syndrome; Orbeli's syndrome : primary_id: MESH:C535484 : alt_id: RDO:0000621: For additional species annotation, visit the Alliance of Genome Resources. show.
  3. 13q Deletion Syndrome is categorized as a rare disease. 13q Deletion Syndrome is a rare chromosomal disorder caused by the deletion of the long arm of the 13th chromosome. Opposite of a chromosome duplication. This disease is the result of a loss or a mutation of genetic material of a chromosome.
  4. Deletion 13q Syndrome. 43 likes · 1 talking about this. Communit
  5. Distal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. The term distal means that the missing piece occurs near one end of the chromosome. Distal 18q deletion syndrome can lead to a wide variety of signs and symptoms among affected individuals

http://chromosome13deletion

  1. The 13q deletion syndrome was first described as a distinct entity in 1969 in patients with mental and growth retardation associated with retinoblastoma (Rb) . Because of the highly variable clinical features associated with 13q deletion, there has been a growing interest in defining genotype-phenotype correlations
  2. 13q deletion syndrome in an adult mentally retarded patient. Van Buggenhout G , Trommelen J , Hamel B , Fryns JP Genet Couns , 10(2):177-181, 01 Jan 199
  3. or changes in physical appearance and intellectual disabilities of varying degrees
  4. We have treated a patient with a large interstitial deletion of 13q13-q32 who also had familiar malformations associated with the 13q deletion syndrome. The key ophthalmological finding in our particular patient, however, was a unilateral uveal coloboma combined with retinoblastoma. The other eye remained normal after 4 years of follow-up
  5. Délétion 13Q. Angelman syndrome. Délétion 22Q13. Pour aller plus loin. Asthme prédisposition génétique. Ski de fond conseils spéciaux. Piqûre de chenilles processionnaires. Les chenilles processionnaires sont des insectes nuisibles potentiellement dangereux pour les êtres humains
  6. A fact from 13q deletion syndrome appeared on Wikipedia's Main Page in the Did you know? column on 4 August 2015 (check views). The text of the entry was as follows: Did you know... that 13q deletion syndrome can cause imperforate anus? A record of the entry may be seen at Wikipedia:Recent additions/2015/August

13q Deletion Syndrome - FindZebr

Our little peanut, Kylie Carlson, born June 8, 1998, is now 14. She was born two weeks early because the doctor was concerned she was not thriving. Her Apgar tests were normal. However, we found out that she had not stopped growing— it was just that she was growing slowly because of her disorder. When Kylie was no Learn about 1p36 deletion syndrome, a genetic disorder with characteristics such as temper tantrums, biting, behavior problems, seizures, swallowing problems, and microbrachycephaly. Symptoms of 1p36 deletion syndrome can be managed through medication

The 13q-deletion syndrome

13q Deletion Syndrome 13q Deletion Syndrome active profile. Summary. None All SNPs. Genes SNP Risk Alleles; Load more. Disease Hierarchy × Selected genes are highlighted in orange, bookmarked. Monosomi 13q-syndromet Partiell monosomi 13q Translokation 22q 13.3, 9p-Partiell trisomi 13q syndromet 13 translokation obalanserad Saknar från 31-band, 13 q-arm, 60% av celllerna 13-deletion-syndrom (Abberation i ring) Deletion kromosom nr 13q Monosomi 13 och partiell trisomi 4 Partiell trisomi 14 Partiell trisomi 14p Partiell trisomi 14

While 13q deletion syndromes are well-recognized, we present a novel translocation associated with 13q deletion and a complex clinical phenotype. The variability in reported phenotypes depends, in part, on the portions of 13q that are deleted and whether other chromosomal abnormalities are involved Research of Chromosome 13q Deletion Syndrome has been linked to Retinoblastoma, Cytogenetic Abnormality, Chromosome 13q Deletion, Retinal Neoplasms, Congenital Abnormality. The study of Chromosome 13q Deletion Syndrome has been mentioned in research publications which can be found using our bioinformatics tool below 46 Chromosome 13q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 13. the severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. features that often occur in people with chromosome 13q deletion include developmental delay. Five patients with interstitial deletion 13q are reported. High‐resolution chromosome banding established the diagnosis in two cases and stated the exact breakpoints in three remaining cases. All parents had normal chromosomes. An unequal and so far unexplained sex ratio of previously published and present cases was found: M:F = 1:2.75 Deletions of the long arm of chromosome 13 (del13q) are among the recurrent cytogenetic abnormalities found not only in MPN but also in other hematological malignancies. The frequency of del13q is highest in PMF and post-polycythemic myelofibrosis (13-20% of all aberrations)

chromosome 13 deletion 4 - YouTube

Orbeli syndrome, or 13q deletion syndrome, is a rare condition caused by a distal deletion in the long arm of chromosome 13. The syndrome is characterized by severe physical malformations and developmental delays and has been associated with numerous ocular manifestations syndrome appears to be balanced between males and females. Clinical features of deletion 9p syndrome: Common features of this syndrome include trigonecephaly with prominent forehead, small upslanting palpebral fissures, flat nasal bridge, orbital hypertelorism, long philtrum, low set dysplastic ears and long phalanges with excess of whorls Distal Deletions 13q (Orbeli Syndrome) Deletions of the distal part of chromosome 13 cause a well-known syndrome. Sometimes it is called Orbeli syndrome. Clinical delineation of the syndrome was done the in the 1970's, and at least 195 patients with these deletions as a sole abnormality have been reported though a few patients with 13q deletion have been previously vesicoureteral reflux (VUR), hypoplastic or multicystic reported with renal anomalies, the association of SRNS with dysplastic kidneys, and bladder outlet obstruction [1-4]. 13q has not been reported and critical regions associated with These anomalies often coexist (i.e., VUR can often b

Retinoblastoma: Genetic Counseling and Testing | Ento KeyPatent WO2012177792A2 - Methods and processes for non

13q deletion syndrome - SUPPORTS A HEALTHY LIF

Summary Deletion in the long arm of chromosome 13 is relatively rare. Fewer than 100 cases are reported in the literature. Patients with 13q deletion have widely variable phenotypes. Hand anomalies, when present, include absent or hypoplastic thumbs, bony synostoses of the metacarpals, and brachyphalangy of the middle phalanx of the little finger. We report four cases with 13q deletion seen at. International audience13q deletion is characterized by a wide phenotypic spectrum resulting from a partial deletion of the long arm of chromosome 13. The main clinical features are mental retardation, growth retardation, craniofacial dysmorphy and various congenital defects Acute Orbital Compromise after Intra-Arterial Chemotherapy in a Complex Retinoblastoma Associated with 13q Deletion Syndrome Sophia El Hamichi, Dhariana Acon, Veronica Kon Graversen, Aaron S. Gold, Audina M. Berrocal , Timothy G. Murra

Chromosome 13q Deletion Syndrome - dovemed

1p36 Deletion Syndrome Symptoms 1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems Request PDF | On Jul 1, 2001, A Ganesh and others published Retinoblastoma and the 13q deletion syndrome | Find, read and cite all the research you need on ResearchGat Keywords: 13q deletion syndrome, factor VII deficiency, factor 7 deficiency, partial monosomy of the long arm of chromosome 13, factor VII Hematology & Transfusion International Journal Case Report Open Access. Deficiency of coagulation factor Vll in a 4 years old child with 13q deletion syndrome: a case report

13q deletion syndrome and retinoblastoma in identical

In CLL - it is considered a favorable alteration. Of all the FISH abnormalities you can have, if that is the only one, you are likely going to live longer than other patients with CLL. In fact, if you have an mutated BCR, isolated 13q deletion, and early stage disease - chances are you may never actually need treatment After the first 13q deletion syndrome case was described in 1963, approximately 180 cases associated with partial or complete deletion of the long arm (q) of chromosome 13 have been reported in. Deletions of the long arm of chromosome 13 (13q-) are observed in patients with multiple myeloma (MM), are rarely observed in the monoclonal gammopathy of undetermined significance (MGUS) and have been associated with a worsened prognosis in MM

Distal 13q Deletion Syndrome and the VACTERL association

SYMPTOMES Cette maladie génétique est une des délétion chromosomiques les plus fréquentes (Un cas sur 5 à 10.000 naissances). - retard de croissance important - difficultés comportementales - Auto-agressivité - hypotonie - dysphagie oropharyngée créant des problèmes nutritionnels - épilepsie fréquente Malformations cardiaques, visuelle et auditives peuvent s'observer Abstract. PURPOSE: To report the case of identical dichorionic diamniotic female twins with unilateral retinoblastoma in 13q deletion syndrome. METHODS: Clinical and ophthalmoscopic evaluation, combination of multiple ligation-dependent probe amplification, array-comparative genomic hybridization analyses, and magnetic resonance imaging were performed Introduction to Phelan-McDermid syndrome. Phelan-McDermid syndrome (PMS), is also known as 22q13 Deletion syndrome. It is a genetic condition that is caused by a variance of the SHANK3 gene or a deletion (a missing piece) of genetic material that causes many different but related symptoms. The genetic changes that cause PMS vary from person to person and can occur randomly (de novo) or be. European journal of medical genetics 2008-11-22 Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. [Chloé Quélin, Claude Bendavid, Christèle Dubourg, Céline de la Rochebrochard, Josette Lucas, Catherine Henry, Sylvie Jaillard, Philippe Loget, Laurence Loeuillet, Didier Lacombe, Jean-Marie Rival, Véronique David, Sylvie Odent, Laurent Pasquier deletion 13q syndromes: a report on two unrelated patients. Hum Genet 1979;52:269-74. 7Yunis JJ, Ramsay N. Retinoblastoma and subband deletion of chromosome 13. AmJ Dis Child 1978;132:161-3. 8 Yunis E, Zuniga R, Ramirez E. Retinoblastoma, gross internal malformations and deletion 13q (14-931). Hum Genet 1981;56:283-6. 9Carmichael A, AddyDP.

Syndrome de délétion 13q — Wikimedic

Deletion 13q Syndrome. 42 likes. Community. See more of Deletion 13q Syndrome on Faceboo Patients with 13q deletion syndrome present with varying degrees of cognitive and growth delay, craniofacial dysmorphisms, and congenital malformations. The etiology of the sensorineural hearing loss has not been elucidated, and genes associated with other syndromes which include sensorineural hearing loss have been proposed as the causative agents We identified two children with 13q deletion who had a range of CAKUT with one child having steroid-resistant nephrotic syndrome (SRNS). Although cases of 13q deletion syndrome have been previously identified with renal malformations, its association with SRNS has not been reported and no information is available on the critical regions on 13q associated with renal development Children with 13q deletion syndrome should be followed up continuously by a neurologist, pediatric surgeon, and a rehabilitation physician, who can also coordinate interventions with different specialists

DELETION 13Q SYNDROME 13Q SYNDROME) - YouTub

Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).WS type 4A is caused by mutation in the EDNRB gene () Retinoblastoma. 13q deletion syndrome is associated with intellectual disabilities and certain congenital malformations in children, but this condition is rare.The severity of 13q deletion syndrome depends on the size and location of the deletion. A large deletion, especially fro DiGeorge syndrome is caused by a problem called 22q11 deletion. This is where a small piece of genetic material is missing from a person's DNA. In about 9 in 10 cases (90%), the bit of DNA was missing from the egg or sperm that led to the pregnancy. This can happen by chance when sperm and eggs are made. It is not a result of anything you did. The deletion was not present in the DNA of their parents and older brother. CONCLUSIONS: Dysmorphic features in children must be always suspicious of 13q deletion syndrome and a short ophthalmoscopic follow-up is necessary to detect the presence of a retinoblastoma

Secondary Burkitt lymphoma in a retinoblastoma patient with 13q deletion syndrome. Pediatric Blood & Cancer, 2006. Ratanaporn Pornku A 12 month-old male patient with a karyotype 46, XY,-15,+der(15),t(13;15)(q22;q26)pat is presented. His stillborn sib showed malformations compatible with the 13q deletion syndrome, probably due to a.. Rank Term Type of term Relevance score (tfidf) Class's shr. of term's tot. occurrences Shr. of publ. in class containing term Num. of publ. in class; 1: RING CHROMOSOME 21: Author keyword: 24: 82%: 2%: 14: 2: MONOSOMY 21: Author keyword: 19: 63%: 3 chromosome 13q deletion syndrome. Motegi2 reported facial characteristics in patients with an interstitial deletion of 13q consisting of prominent eyebrows, broad nasal bridge, bullous tip of the nose, a thin upper lip, and long philtrum. Other workers3 noted anteverted ear lobes, high broa The 13q-deletion syndrome. Am J Hum Genet 1969;21:499-512. 2. Bunin GR, Emanuel BS, Meadows AT, Buckley JD, Woods WG, Hammond GD. Frequency of 13q abnormalities among 203 patients with retinoblastoma. J Natl Cancer Inst 1989;81:370-4. 3. Yamane T, Kaneko A, Mohri M. The technique of.

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