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]

A mosaic exists when a person presents with trisomic cells in their body, but in the presence of normal chromosomic cells. The genetic error occurs during the division of cells after fertilization. Trisomy 8 is rarely observed at birth. [accessanesthesiology.mhmedical.com]

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]

• Developmental Delay

  Features that often occur in people with chromosome 8q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. [malacards.org]

  The 8p23.1 duplication is associated with a variable phenotype including one or more of speech delay, developmental delay, mild dysmorphism, with prominent forehead and arched eyebrows, and congenital heart disease (CHD). [2] [3] Presentation [ edit ] [en.wikipedia.org]

  Features that have been more commonly reported in people with a chromosome 8q duplication include developmental delay, learning difficulties, congenital heart defects, skeletal abnormalities, genital or urinary abnormalities, and distinctive facial features [rarediseases.info.nih.gov]

  Shortly after birth, infants show signs of difficulties with feeding and swallowing resulting from hypotonia, gastro-esophageal reflux, failure to thrive, developmental delay, seizures, and recurrent respiratory infections. [secure.ssa.gov]

• 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]

  One pregnancy was terminated in late second trimester of gestation as the fetus was found to have multiple congenital anomalies on antenatal ultrasound. [hindawi.com]

  Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. Am J Med Genet A. 2006 Mar 15. 140(6):628-32. [Medline]. Battaglia A. Wolf-Hirschhorn (4p-) syndrome. Cassidy SB, Allanson JE. Management of genetic syndromes. [emedicine.staging.medscape.com]

  congenital anomaly with mental retardation using in-house CGH-arrays. [docsplayer.net]

• Pulmonary Valve Stenosis

  Although the cytogenetics were slightly different, this patient had clinical features overlapping those reported in San Luis Valley syndrome, including a perimembranous ventricular septal defect with inlet extension, pulmonary valve stenosis, and a secundum-type [omim.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]

• Heart Disease

  The patient was a female neonate with facial dysmorphia, agenesis of the corpus callosum, cleft palate, and congenital heart disease. G-band standard karyotype was 46,XX,add(13)(q34). [ncbi.nlm.nih.gov]

  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]

  Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet. 1999;64:1119-26. Bhatia SN, et al. Prenatal detection and mapping of a distal 8p deletion associated with congenital heart disease. [rarediseases.org]

  Moss and Adams' Heart Disease in Infants, Children and Adolescents Including the Fetus and Young Adult. ‎ Seite 301 - Landon MB, Mintz MC, Gabbe SG. [books.google.de]

  The 8p23.1 duplication is associated with a variable phenotype including one or more of speech delay, developmental delay, mild dysmorphism, with prominent forehead and arched eyebrows, and congenital heart disease (CHD). [2] [3] Presentation [ edit ] [en.wikipedia.org]

• 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]

• Gingival Hypertrophy

  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]

• Low Set Ears

  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]

  Trisomy 8 This girl with facial dysmorphism (high forehead, hypoplastic mandible) and low-set ears was diagnosed with a trisomy 8 mosaicism. Trisomy C; Trisomy 8s. Mosaicism is less common than what is often referred to as “full” trisomy. [accessanesthesiology.mhmedical.com]

  […] disorder that consists of multiple 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 [emedicine.staging.medscape.com]

  Characteristic facial features were noticed in the neonatal period, including hypertelorism and epicanthic folds, broad flat nasal bridge, anteverted nostrils, long philtrum, thin upper lip, low-set ears, Cupid’s bow lip, and micrognathia. [molecularcytogenetics.biomedcentral.com]

• Long Arm

  […] of the long arm of chromosome 8 causes most of the clinical findings of trisomy 8 mosaicism syndrome. [ncbi.nlm.nih.gov]

  […] translocation chromosome inherited from his mother. p short arm of chromosome pat paternal origin q long arm of chromosome r ring chromosome 46,X,r(X) Female with ring X chromosome rcp reciprocal translocation rob Robertsonian translocation t translocation [radford.edu]

  NIH Rare Diseases : 53 Chromosome 8q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 8. [malacards.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]

• Hypertelorism

  Affiliated tissues include bone, heart and tongue, and related phenotypes are hypertelorism and short neck [malacards.org]

  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]

  Clinical features involve head and face (simian crease seizures; expressionless facies; micrognathia; prominent forehead; large dysplastic ears; microphthalmia; strabismus; hypertelorism; corneal opacity; cataract, heterochromia; everted lips; highly [accessanesthesiology.mhmedical.com]

  Dysmorphic facial features included prominent forehead, large prominent ears with prominent antihelices, deep-set eyes, hypertelorism, bilateral corneal opacities, broad nose, thick everted lips, and high-arched palate. [hindawi.com]

  She showed several craniofacial dysmorphisms, such as square face with broad prominent forehead, small nose with anteverted nostrils, left epicanthic folds, ocular hypertelorism, micrognathia, bilateral severe malformed ears, hypoplastic helix. [thieme-connect.com]

• Short Neck

  Affiliated tissues include bone, heart and tongue, and related phenotypes are hypertelorism and short neck [malacards.org]

  Direct laryngoscopy and tracheal intubation can be difficult because of short neck and microretrognathia. [accessanesthesiology.mhmedical.com]

  […] 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]

• Wide Face

  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]

  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]

• 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]

• 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]

• Cryptorchidism

  Affiliated tissues include tongue, heart and bone, and related phenotypes are cryptorchidism and cleft palate [malacards.org]

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

  […] features of T8mS include mild-to-moderate mental retardation, strabismus osseous and soft tissue abnormalities, lowset and/or malformed ears, broad bulbous nose, palate deformity, various types of congenital cardiovascular disorders, hypronephrosis, cryptorchidism [pediatrics.aappublications.org]

  Abdominal and pelvic organs (hydronephrosis, ureteral reflux, cryptorchidism, malrotation or absence of gallbladder, jejunal duplication, gastric sarcoma) and thoracic organs (cardiac septal defects and great vessel anomalies) can present malformations [accessanesthesiology.mhmedical.com]

  He also had hypospadias and cryptorchidism. Stevens et al. (2010) suggested that haploinsufficiency of the GATA4 gene (600576) on chromosome 8p23 may be involved in the cardiac defects. [omim.org]

• Behavior Problem

  Features that often occur in people with chromosome 8q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. [malacards.org]

  Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. [rarediseases.info.nih.gov]

  Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13). Am J Med Genet. 2001;99:314-19. Devriendt K, et al. [rarediseases.org]

  The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. [karger.com]

• Perseveration

  My advice to other parents is to have perseverance, follow your gut and—when all else fails—let your child be your guide. If we hadn’t followed our gut and kept asking questions, we may have never found out about Aaron’s deletion. [globalgenes.org]

Clinical Testing and Workup There are different tests that can be performed on sample tissue for chromosomal analysis. [rarediseases.org]

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

Additional cytogenetic aberrations other than t(8;21), inv(16), t(16;16), t(15;17) or 11q23 had no influence on treatment outcome.Interpretation and Conclusions We provide a new prognostic model for risk stratification of AML patients with +8. [haematologica.org]

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]

[…] 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]

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]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

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]