Edit concept Question Editor Create issue ticket

Trisomy 8q

Chromosome 8q Duplication Syndrome


Presentation

  • Two cases of partial trisomy 8q are presented.[ncbi.nlm.nih.gov]
  • We present a case of a fetus mosaic for trisomy of the entire long arm (q) of chromosome 8 without additional chromosomal aberrations.[ncbi.nlm.nih.gov]
  • Treatment is based on the signs and symptoms present in each person. Last updated: 1/24/2019[rarediseases.info.nih.gov]
  • Treatment is based on the signs and symptoms present in each person. MalaCards based summary : Chromosome 8q Duplication, also known as duplication 8q , is related to distal trisomy 8q and hydrocephalus .[malacards.org]
Multiple Congenital Anomalies
  • Abstract We report on a folate sensitive fragile site at Xq27-28 in a girl with a multiple congenital anomalies and mental retardation syndrome, who also carries a duplication of the long arm of chromosome 8.[jmg.bmj.com]
  • Duplication of 8p21-p22 results in a clinically recognizable multiple congenital anomalies/mental retardation (MCA/MR) syndrome.[lirias.kuleuven.be]
  • congenital anomalies and intellectual disability caused by an interstitial deletion of chromosome 17p11.2 Duplication 4p syndrome: This syndrome is characterized by interstitial direct duplication of 4p (4p16.1-3), large low-set ears, microcephaly, a[emedicine.staging.medscape.com]
  • congenital anomaly with mental retardation using in-house CGH-arrays.[docsplayer.net]
Broad Thumb
  • A male infant who died within 72 hours following an apneic episode showed clinical features of trisomy 8: abnormal facies, cloanal atresis, congenital heart disease, hypospadias, broad thumbs and toes, and tracheoesophageal fistula.[nature.com]
Arachnodactyly
  • Down turned corners of mouth * Thin upper lip * Everted lower lip * Arched palate * High palate * Bifid uvula * Short frenulum * Broad neck * Short neck * Pectus deformity * Widely spaced nipples * Extra ribs * Abnormal ribs * Postural foot deformity * Arachnodactyly[checkorphan.org]
Failure to Thrive
  • Physical findings : Failure to thrive; difficulties with swallowing and feeding; gastroesophageal reflux; and abnormal muscle tone (ranging from hypotonia to spasticity).[secure.ssa.gov]
  • Group 2 1. del(2)(q13q13): a Group 2 deletion of 1.62 Mb from the proximal long arm of chromosome 2 between base pairs 111,155,700 to 112,776,503 was ascertained in a boy with birth asphyxia and failure to thrive at 6 months of age (Family 3 in Bisgaard[ngrl.org.uk]
  • Hypotonia can affect infants, most often related to difficulty feeding, resulting in the failure to gain weight and grow at the expected rate (failure to thrive). In general, growth deficiency primarily begins after birth (postnatally).[rarediseases.org]
Cardiomegaly
  • Prenatal sonographic examination showed intra-uterine growth retardation, bilateral ventriculomegaly, cardiomegaly with arrhythmia, anhydramnios, and absent kidney and urinary bladder images. The pregnancy was terminated at 28 weeks of gestation.[ncbi.nlm.nih.gov]
Prognathism
  • Symptoms - Chromosome 8- trisomy 8q * Prominent forehead * Small jaw * Retrognathia * Flat back of skull * Mandibular prognathism * Chin dimple * Large ears * Abnormal pinnae * Deeply set eyes * Strabismus * Widely spaced eyes * Upward slanting space[checkorphan.org]
  • In addition, the syndrome causes a prognathism, the face is long and small and the patient has large ears. If chromosome pieces that have been broken out become inserted again, but reversed, an inversion has occurred.[embryology.ch]
Macrostomia
  • High, prominent forehead; wide face in infancy; fleshy, everted lower lip; long and poorly defined philtrum with marked macrostomia and gingival hypertrophy; low nasal bridge and antevertebral nostrils; hyperextensibility of the finger joints; and hypoplastic[accessanesthesiology.mhmedical.com]
Coxa Valga
  • valga, and short fingers with brachymesophalangy and clinodactyly of the little fingers.[ncbi.nlm.nih.gov]
  • valga; abnormal diaphyses and epiphyses of radial, femoral, and humeral bone; kyphoscoliosis, hemivertebrae; fusion of vertebrae; spina bifida; broad dorsal ribs).[accessanesthesiology.mhmedical.com]
Foot Deformity
  • Large mouth * Down turned corners of mouth * Thin upper lip * Everted lower lip * Arched palate * High palate * Bifid uvula * Short frenulum * Broad neck * Short neck * Pectus deformity * Widely spaced nipples * Extra ribs * Abnormal ribs * Postural foot[checkorphan.org]
Hirsutism
  • No hirsutism or acne was noted. No thyromegaly, no organomegaly, and no cardiac murmurs were noted. She was nonverbal, however was co-operative with the examination.[karger.com]
Hypertrichosis
  • Common clinical features included severe mental and physical retardation, a prominent and short forehead, widely set mongoloid eyes, broad, flat nose with short septum, short upper lip, misshapen ears, a funnel chest, hypertrichosis of the back, coxa[ncbi.nlm.nih.gov]
Widely Spaced Nipples
  • spaced nipples * Extra ribs * Abnormal ribs * Postural foot deformity * Arachnodactyly * Clinodactyly * Brachydactyly * Proximal thumb displacement * Hallux valgus * Abnormal toe posture * Abnormal palmar creases * Plantar furrows * Palmar furrows *[checkorphan.org]
  • Additional findings included a webbed neck, hypoplastic and wide spaced nipples, bilateral cryptorchidism, anteriorly placed anus and deep sacral crease.[ashg.org]
  • Some affected infants may also have a short, webbed neck; a highly arched roof of the mouth (palate); and/or widely spaced nipples. Teeth may erupt later than expected and may emerge crooked.[rarediseases.org]
Beaked Nose
  • * Small jaw * Retrognathia * Flat back of skull * Mandibular prognathism * Chin dimple * Large ears * Abnormal pinnae * Deeply set eyes * Strabismus * Widely spaced eyes * Upward slanting space between eyelids * Drooping upper eyelid * Short nose * Beaked[checkorphan.org]
Beak Nose
  • * Small jaw * Retrognathia * Flat back of skull * Mandibular prognathism * Chin dimple * Large ears * Abnormal pinnae * Deeply set eyes * Strabismus * Widely spaced eyes * Upward slanting space between eyelids * Drooping upper eyelid * Short nose * Beaked[checkorphan.org]
Beaked Nose
  • * Small jaw * Retrognathia * Flat back of skull * Mandibular prognathism * Chin dimple * Large ears * Abnormal pinnae * Deeply set eyes * Strabismus * Widely spaced eyes * Upward slanting space between eyelids * Drooping upper eyelid * Short nose * Beaked[checkorphan.org]
Chin Dimples
  • Symptoms - Chromosome 8- trisomy 8q * Prominent forehead * Small jaw * Retrognathia * Flat back of skull * Mandibular prognathism * Chin dimple * Large ears * Abnormal pinnae * Deeply set eyes * Strabismus * Widely spaced eyes * Upward slanting space[checkorphan.org]
Mandibular Prognathism
  • Symptoms - Chromosome 8- trisomy 8q * Prominent forehead * Small jaw * Retrognathia * Flat back of skull * Mandibular prognathism * Chin dimple * Large ears * Abnormal pinnae * Deeply set eyes * Strabismus * Widely spaced eyes * Upward slanting space[checkorphan.org]
Small Scrotum
  • scrotum * Growth retardation * Mental retardation * Long trunk * Narrow trunk * Sloping shoulders * Narrow pelvis Causes - Chromosome 8- trisomy 8q Not supplied.[checkorphan.org]
Absent Kidney
  • Prenatal sonographic examination showed intra-uterine growth retardation, bilateral ventriculomegaly, cardiomegaly with arrhythmia, anhydramnios, and absent kidney and urinary bladder images. The pregnancy was terminated at 28 weeks of gestation.[ncbi.nlm.nih.gov]
Posture Abnormal
  • * Short frenulum * Broad neck * Short neck * Pectus deformity * Widely spaced nipples * Extra ribs * Abnormal ribs * Postural foot deformity * Arachnodactyly * Clinodactyly * Brachydactyly * Proximal thumb displacement * Hallux valgus * Abnormal toe posture[checkorphan.org]

Workup

  • Clinical Testing and Workup There are different tests that can be performed on sample tissue for chromosomal analysis.[rarediseases.org]
  • Because this is a more expensive test, it is often not the first test ordered during a diagnostic workup. However, it is a much more precise test than a routine chromosome analysis.[chromosome18.org]

Treatment

  • Treatment is based on the signs and symptoms present in each person. MalaCards based summary : Chromosome 8q Duplication, also known as duplication 8q , is related to distal trisomy 8q and hydrocephalus .[malacards.org]
  • Treatment is based on the signs and symptoms present in each person. Last updated: 1/24/2019[rarediseases.info.nih.gov]
  • Treatment - Chromosome 8- trisomy 8q Not supplied. Resources - Chromosome 8- trisomy 8q Terms Similar to Chromosome 8, trisomy 8q: * Duplication 8q * Trisomy 8q Source - NIH[checkorphan.org]
  • How well treatment works still varies widely in each of these groups.[cancer.net]

Prognosis

  • Prognosis - Chromosome 8- trisomy 8q Not supplied. Treatment - Chromosome 8- trisomy 8q Not supplied. Resources - Chromosome 8- trisomy 8q Terms Similar to Chromosome 8, trisomy 8q: * Duplication 8q * Trisomy 8q Source - NIH[checkorphan.org]
  • […] associated with intermediate or poor prognosis.[atlasgeneticsoncology.org]
  • In these patients 8 might not be the prognosis-determinating aberration.[haematologica.org]
  • Changes associated with a less favorable prognosis include normal chromosomes, where no changes are found and a translocation between chromosomes 9 and 11 [t(9;11)].[cancer.net]
  • For example, the German AML Cooperative study group found that though 8 as the sole aberration (n   20) conferred an intermediate prognosis (70% CR), when it was combined with “favorable” aberrations such as t(8;21), t(15;17), or inv(16), the prognosis[bloodjournal.org]

Etiology

  • The initial chapters discuss surgical anatomy of hernias, incidence and etiology, diagnosis and anaesthesia. The following sections are each dedicated to a different type of hernia and its surgical management.[books.google.com]
  • At this point, the etiology of the hypogonadism in our patient is not completely understood, although the childhood-onset CPP was most likely part of the Williams syndrome phenotype.[karger.com]

Epidemiology

  • Disease Chronic myelogenous leukaemia (CML) Epidemiology 8 is one of the major anomalies additional to the t(9;22) , with i(17q) , der(22), before 19 ; found as a unique additional anomaly in 10%, with other in 25% of CML cases with clonal evolution;[atlasgeneticsoncology.org]
  • Dr Mark Daly, who works at the Massachusetts General Hospital (MGH) Center for Human Genetic Research, and was senior researcher of the gene discovery team on the study said: "While epidemiologic studies indicate a very large genetic component to autism[medicalnewstoday.com]
Sex distribution
Age distribution

Pathophysiology

  • Myelodysplastic syndrome and aplastic anemia: distinct entities or diseases linked by a common pathophysiology?.Semin Hematol. 2000;37:15–29. View Article Google Scholar 27.[journals.plos.org]

Prevention

  • Prevention - Chromosome 8- trisomy 8q Not supplied. Diagnosis - Chromosome 8- trisomy 8q signs and symptoms of Chromosome 8q duplication syndrome may vary on an individual basis for each patient.[checkorphan.org]
  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • Once the biopsy is done, pressure will be applied to the site to help prevent bleeding.[cancer.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!