Treatment is based on the signs and symptoms present in each person. Last updated: 1/24/2019 [rarediseases.info.nih.gov]

Two cases of partial trisomy 8q are presented. [ncbi.nlm.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]

• 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]

• 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]

• 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]

• 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]

• Widely Spaced Nipples

  Additional findings included a webbed neck, hypoplastic and wide spaced nipples, bilateral cryptorchidism, anteriorly placed anus and deep sacral crease. [ashg.org]

  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]

  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

  * Beaked nose * Broad nasal base * Flat nasal root * Anteverted nostrils * Bulbous nasal tip * Epicanthal folds * Long philtrum * Large mouth * Down turned corners of mouth * Thin upper lip * Everted lower lip * Arched palate * High palate * Bifid uvula [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]

• Downturned Corners of the Mouth

  Dysmorphic features included wide face with brachycephaly, plagiocephaly, hypertelorism, long eyelashes, thin vermilion border, downturned corners of the mouth, low-set ears, broad alveolar ridges, broad tip of the nose, and long philtrum. [omim.org]

• Posture Abnormal

  […] ribs * Postural foot deformity * Arachnodactyly * Clinodactyly * Brachydactyly * Proximal thumb displacement * Hallux valgus * Abnormal toe posture * Abnormal palmar creases * Plantar furrows * Palmar furrows * Joint contractures * Abnormal patellae [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]

• Small Scrotum

  […] penis * Small scrotum * Growth retardation * Mental retardation * Long trunk * Narrow trunk * Sloping shoulders * Narrow pelvis Causes - Chromosome 8- trisomy 8q Not supplied. [checkorphan.org]

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]

How well treatment works still varies widely in each of these groups. [cancer.net]

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]

Summary of the eight prospective treatment trials of the German AML Intergroup. [haematologica.org]

Treatment is based on the signs and symptoms present in each person. Last updated: 1/24/2019 [rarediseases.info.nih.gov]

[…] 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]

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]

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]

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]

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]

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 - 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]

Once the biopsy is done, pressure will be applied to the site to help prevent bleeding. [cancer.org]