Trisomy 9 Signs and symptoms, Diagnosis, and Existence Expectancy

 

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65 rows · Jan 18, 2015 · The signs and symptoms of mosaic trisomy 9 vary but may includ. It is hard to predict how long someone with mosaic trisomy 9 will live. Infants with trisomy 9 in most of their cells may be very sick and may die in early childhood; however, individuals with less cells that have the extra 9th chromosome may have fewer health issues and should live longer. Rarely, individuals with a very small amount of extra chromosome 9 cells found on.

Full trisomy 9 is a lethal chromosomal disorder caused by having three copies of chromosome number 9.It can be a viable condition if trisomy affects only part of the cells of the body or in cases of partial trisomy (trisomy 9p) in which cells have a normal set of two entire chromosomes 9 plus part of a third copy, usually of the short arm of the chromosome (arm p). Chromosome 9, trisomy 9p: Introduction. Chromosome 9, trisomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two.

More detailed information about the symptoms, causes, and treatments of Chromosome 9, trisomy 9p is available below.. Symptoms of Chromosome 9, trisomy. In trisomy 9 mosaicism there is an extra chromosome 9, making a total of 47 chromosomes, in some cells in the body. The remaining cells have the usual number of 46 chromosomes, with two copies of chromosome 9 in each cell. Diagnosis: the karyotype When you are told about your child’s chromosome disorder, you are often given a karyotype.

Trisomy 9 is a rare and almost always fatal genetic disease. Partial or complete trisomy forms exist and lead to symptoms involving cardiovascular, urinary, nervous, skeletal, gastrointestinal and other systems. The diagnosis can be made prenatally through chorionic villus sampling, amniocentesis, karyotyping and ultrasonography. Some of the common symptoms are: Low birthweight Comparatively small jaw and mouth Abnormal and smaller head Low-set ear Cleft palate Underdeveloped small thumbs and fingers with clenched feet Breathing problem Heart, kidney and problems with other organs as well Urinary and ling infection. Trisomy 13(Patau Syndrome)Definition, Causes, Symptoms, Life Expectancy And Diagnosis 20/01/2020 0 Comments “Trisomy 13 also known as Patau syndrome occurs due to the numerical chromosomal abnormality in which an extra copy of chromosome 13 present with a pair.”.

The symptoms of characteristics of Trisomy 13 include: • Polydactyl i.e. extra toe or finger may be present • Clenched hands • Small eyes or eyes may fuse into one another to form close-set eyes • Reduced muscle tone • Umbilical and Inguinal hernia • Split, cleft or hole present in the iris. • Scalp. It is therefore difficult to improve Trisomy 13 life expectancy. Healthcare providers focus their treatment on improving symptoms only.

Many children with this disorder eventually need surgery as well as occupational therapy, speech therapy, physical therapy, and other supportive treatment measures.

List of related literature:

For mothers younger than 35 years, the recurrence risk is approximately 0.5% for a subsequent trisomy 21 and 1% for any chromosome abnormality.

“Yen & Jaffe's Reproductive Endocrinology E-Book” by Jerome F. Strauss, Robert L. Barbieri
from Yen & Jaffe’s Reproductive Endocrinology E-Book
by Jerome F. Strauss, Robert L. Barbieri
Elsevier Health Sciences, 2009

An accurate cytogenetic diagnosis of trisomy 13 is imperative, as mosaicism and partial trisomy 13 cases have been described and these infants may have a somewhat better prognosis.

“Current Management in Child Neurology” by Bernard L. Maria
from Current Management in Child Neurology
by Bernard L. Maria
BC Decker, 2009

It is estimated that approximately 64 per cent of foetuses affected by this chromosomal abnormality are either managed by termination or die in utero, making the actual rate for Trisomy 21 closer to 26.3 per 10 000 pregnancies (Abeywardana & Sullivan, 2008: 140).

“Paediatric Nursing in Australia” by Jennifer Fraser, Donna Waters, Elizabeth Forster, Nicola Brown
from Paediatric Nursing in Australia
by Jennifer Fraser, Donna Waters, et. al.
Cambridge University Press, 2017

Only 0.1% of trisomy 9 conceptions will result in live birth with poor prognosis, with survival times ranging from mere minutes to 9 months after birth.9 Live-born fetuses will have a mosaic phenotype.

“Obstetric Imaging: Fetal Diagnosis and Care E-Book” by Joshua Copel, Mary E. D'Alton, Helen Feltovich, Eduard Gratacos, Anthony O. Odibo, Lawrence Platt, Boris Tutschek
from Obstetric Imaging: Fetal Diagnosis and Care E-Book
by Joshua Copel, Mary E. D’Alton, et. al.
Elsevier Health Sciences, 2017

with transient abnormal myelopoiesis (1.9%) presenting between 29 and 33 weeks of gestation, and all cases had trisomy 21.14 This is further supported by a retrospective case series of 79 cases of trisomy 21 prenatally diagnosed.

“Fetal Medicine E-Book: Basic Science and Clinical Practice” by Pranav P Pandya, Ronald Wapner, Dick Oepkes, Neil Sebire
from Fetal Medicine E-Book: Basic Science and Clinical Practice
by Pranav P Pandya, Ronald Wapner, et. al.
Elsevier Health Sciences, 2019

This is much less than in trisomy 21; the symptoms are more severe, and many affected embryos are spontaneously aborted early in pregnancy.

“Encyclopedia of Special Education: A Reference for the Education of Children, Adolescents, and Adults with Disabilities and Other Exceptional Individuals” by Cecil R. Reynolds, Elaine Fletcher-Janzen
from Encyclopedia of Special Education: A Reference for the Education of Children, Adolescents, and Adults with Disabilities and Other Exceptional Individuals
by Cecil R. Reynolds, Elaine Fletcher-Janzen
Wiley, 2007

Trisomy 18 is a lethal condition in most cases: of the relatively few live-borns, 90% die within 6 months and less than 5% of cases reach 12 months of life.

“Ultrasound of Congenital Fetal Anomalies: Differential Diagnosis and Prognostic Indicators, Second Edition” by Dario Paladini, Paolo Volpe
from Ultrasound of Congenital Fetal Anomalies: Differential Diagnosis and Prognostic Indicators, Second Edition
by Dario Paladini, Paolo Volpe
CRC Press, 2018

Trisomy 18: In 1960 Edwards first described this condition in which the median survival time was less than 1 week, with 90% dying within 6 months of birth and 5% surviving to 1 year.

“The Immunoassay Handbook: Theory and Applications of Ligand Binding, ELISA and Related Techniques” by David Wild
from The Immunoassay Handbook: Theory and Applications of Ligand Binding, ELISA and Related Techniques
by David Wild
Elsevier Science, 2013

Despite aggressive postnatal intervention, nearly 14% of neonates with spina bifida do not survive past 5 years of age, with the mortality rate rising to 35% in those with symptoms of brain stem dysfunction secondary to the Chiari II malformation.203 Clinical symptoms include swallowing difficulty, apnea, and stridor.

“Fetal and Neonatal Physiology” by Richard A. Polin, Steven H. Abman, William W. Fox
from Fetal and Neonatal Physiology
by Richard A. Polin, Steven H. Abman, William W. Fox
Elsevier Health Sciences, 2011

A rapid diagnosis of trisomy 18 would allow that patient to undergo counseling and afford her the option of foregoing tocolysis, antepartum surveillance, Cesarean section for fetal indications and neonatal intervention after birth.

“Clinical Maternal-Fetal Medicine” by Hung N. Winn, John C. Hobbins
from Clinical Maternal-Fetal Medicine
by Hung N. Winn, John C. Hobbins
Taylor & Francis, 2000

Oktay Kutluk

Kutluk Oktay, MD, FACOG is one of the world's foremost experts in fertility preservation as well as ovarian stimulation and in vitro fertilization for infertility treatments. He developed and performed the world's first ovarian transplantation procedures as well as pioneered new ovarian stimulation protocols for embryo and oocyte freezing for breast and endometrial cancer patients.

Mail: [email protected]
Telephone: +1 (877) 492-3666

Biography: https://medicine.yale.edu/profile/kutluk_oktay/
Bibliography: oktay_bibliography

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6 comments

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  • I know a full grown man with this…it’s really sad. He doesn’t really fit in anywhere & he’s intelligent enough to know it. Not a good life unfortunately.

  • Oh she’s so adorable and sweet. My daughter has Trisomy 9 mosiacism is 15 and they look so alike they could be sisters. Thanks for sharing

  • its never acceptable to act on the respiratory actions of a child when he does not need it, it can cause a lot of damage to the child lungs. you need to be really careful when breathing into him like that, thats really harmful. i would appreciate your fed back for your sons well being.. you are doing him harm.

  • What adorable kids you both have. She like a mother when to him. Bless her, and he is so feisty which will be in his favor. He’s a doll. He’s lucky to have been placed in this family, with such wonderful parents. God bless you all.

  • How old is he now? My wife just got cvs results back that indicates potentially mosaic. She has to have to have another test, amniocentesis to get more information…

  • There is another one in South Carolina! I am the proud home health aid to a 12 year old boy with Trisomy 9 and we thought he was the only one in SC as well. Please contact me if you ever want to hear his story or if you would like to know anything. I can connect you with his family.:)